MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
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:

11392

Name:

SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

DO:DOID:0110786

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/612319 |C10.574.500.495.820/612319 |C10.668.829.800.300.820/612319 |C16.131.666.300.820/612319 |C16.320.400.375.820/612319

Synonyms:

FAHN |FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION |LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA |SPG35

Slim Mappings:

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

Reference:

MedGen: 612319
MeSH: 612319
OMIM: 612319;
MSeqDR :
Genes: FA2H;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002518	Abnormality of the periventricular white matter
3	HP:0011448	Ankle clonus	HP:0040283
4	HP:0007366	Atrophy/Degeneration affecting the brainstem
5	HP:0003487	Babinski sign
6	HP:0001272	Cerebellar atrophy
7	HP:0002355	Difficulty walking
8	HP:0001260	Dysarthria NAMDC: Dysarthria
9	HP:0001310	Dysmetria
10	HP:0006978	Dysmyelinating leukodystrophy
11	HP:0001332	Dystonia NAMDC: Dystonia
12	HP:0000544	External ophthalmoplegia	HP:0040283
13	HP:0002079	Hypoplasia of the corpus callosum
14	HP:0001249	Intellectual disability
15	HP:0002061	Lower limb spasticity
16	HP:0001268	Mental deterioration
17	HP:0002180	Neurodegeneration
18	HP:0000639	Nystagmus
19	HP:0000648	Optic atrophy
20	HP:0003676	Progressive
21	HP:0001250	Seizures NAMDC: Seizures
22	HP:0002313	Spastic paraparesis
23	HP:0001258	Spastic paraplegia
24	HP:0001285	Spastic tetraparesis
25	HP:0000486	Strabismus
26	HP:0000020	Urinary incontinence	HP:0040283
27	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NG_017070.1:g.(39810_52446)_(66877_?)del	79152	FA2H	Pathogenic	-1	RCV000024322;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74746853	74773920		dbVar:nssv7487181,OMIM:611026.0008	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*1188A>G	79152	FA2H	Uncertain significance	754403053	RCV000399023;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74746900	74746900	NC_000016.9:g.74746900T>C	ClinGen:CA10644218	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*1131A>C	79152	FA2H	Benign	7189731	RCV000296831;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74746957	74746957	NC_000016.9:g.74746957T>G	ClinGen:CA10638328	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*1129G>A	79152	FA2H	Benign	7184172	RCV000370307;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74746959	74746959	NC_000016.9:g.74746959C>T	ClinGen:CA10638334	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*1074G>A	79152	FA2H	Uncertain significance	896037051	RCV001117162;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747014	74747014	16:g.74747014C>T	-
NM_024306.5(FA2H):c.*1064C>G	79152	FA2H	Benign	1046371	RCV000399189;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747024	74747024	NC_000016.9:g.74747024G>C	ClinGen:CA10638335	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*958C>T	79152	FA2H	Likely benign	115575599	RCV000312219;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747130	74747130	NC_000016.9:g.74747130G>A	ClinGen:CA10648920	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*911C>A	79152	FA2H	Uncertain significance	886052284	RCV000367039;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747177	74747177	NC_000016.9:g.74747177G>T	ClinGen:CA10648922	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*887T>A	79152	FA2H	Uncertain significance	886052285	RCV000272456;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747201	74747201	NC_000016.9:g.74747201A>T	ClinGen:CA10648923	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*885G>T	79152	FA2H	Uncertain significance	529743145	RCV001118793;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747203	74747203	16:g.74747203C>A	-
NM_024306.5(FA2H):c.*821C>G	79152	FA2H	Likely benign	573058036	RCV000328142;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747267	74747267	NC_000016.9:g.74747267G>C	ClinGen:CA10648924	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*813C>T	79152	FA2H	Likely benign	568964501	RCV000364166;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747275	74747275	NC_000016.9:g.74747275G>A	ClinGen:CA10648927	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*783G>A	79152	FA2H	Likely benign	150692675	RCV000269443;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747305	74747305	NC_000016.9:g.74747305C>T	ClinGen:CA10648932	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*772C>A	79152	FA2H	Uncertain significance	886052286	RCV000324538;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747316	74747316	NC_000016.9:g.74747316G>T	ClinGen:CA10638341	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*653G>A	79152	FA2H	Uncertain significance	553741220	RCV000379041;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747435	74747435	NC_000016.9:g.74747435C>T	ClinGen:CA10638342	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*652C>T	79152	FA2H	Uncertain significance	886052287	RCV000265847;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747436	74747436	NC_000016.9:g.74747436G>A	ClinGen:CA10648050	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*646T>G	79152	FA2H	Uncertain significance	886052288	RCV000320849;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747442	74747442	NC_000016.9:g.74747442A>C	ClinGen:CA10644221	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*637G>C	79152	FA2H	Benign	56033857	RCV000375512;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747451	74747451	NC_000016.9:g.74747451C>G	ClinGen:CA10648052	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*520G>A	79152	FA2H	Likely benign	187456324	RCV000281435;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747568	74747568	NC_000016.9:g.74747568C>T	ClinGen:CA10648057	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*506C>G	79152	FA2H	Uncertain significance	774188909	RCV000336455;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747582	74747582	NC_000016.9:g.74747582G>C	ClinGen:CA10644222	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*505G>T	79152	FA2H	Uncertain significance	930910226	RCV001120754;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747583	74747583	16:g.74747583C>A	-
NM_024306.5(FA2H):c.*447C>T	79152	FA2H	Uncertain significance	574506095	RCV000372564;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747641	74747641	NC_000016.9:g.74747641G>A	ClinGen:CA10638343	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*404T>A	79152	FA2H	Benign	73614641	RCV000296817;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747684	74747684	NC_000016.9:g.74747684A>T	ClinGen:CA10648935	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*391C>T	79152	FA2H	Uncertain significance	563533561	RCV000351459;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747697	74747697	NC_000016.9:g.74747697G>A	ClinGen:CA10638345	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*302G>A	79152	FA2H	Uncertain significance	532087618	RCV000396063;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747786	74747786	NC_000016.9:g.74747786C>T	ClinGen:CA10638346	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*283G>C	79152	FA2H	Benign	80215625	RCV000311971\|RCV001618561;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74747805	74747805	NC_000016.9:g.74747805C>G	ClinGen:CA10648937	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*281C>A	79152	FA2H	Benign	189104271	RCV000348117\|RCV001538237;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74747807	74747807	NC_000016.9:g.74747807G>T	ClinGen:CA10638351	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*253A>G	79152	FA2H	Uncertain significance	886052289	RCV000400802;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747835	74747835	NC_000016.9:g.74747835T>C	ClinGen:CA10648938	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*243G>A	79152	FA2H	Benign	115024147	RCV000306369\|RCV001672526;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74747845	74747845	NC_000016.9:g.74747845C>T	ClinGen:CA10648058	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*185G>T	79152	FA2H	Uncertain significance	1597535901	RCV001117250;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747903	74747903	16:g.74747903C>A	-
NM_024306.5(FA2H):c.*165G>A	79152	FA2H	Uncertain significance	527578399	RCV001117251;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747923	74747923	16:g.74747923C>T	-
NM_024306.5(FA2H):c.*150C>T	79152	FA2H	Uncertain significance	559457516	RCV000360954;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74747938	74747938	NC_000016.9:g.74747938G>A	ClinGen:CA10648940	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*62G>A	79152	FA2H	Uncertain significance	528642838	RCV000266399;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74748026	74748026	NC_000016.9:g.74748026C>T	ClinGen:CA10638352	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.*59C>G	79152	FA2H	Uncertain significance	1961636870	RCV001117252;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74748029	74748029	16:g.74748029G>C	-
NM_024306.5(FA2H):c.*34G>A	79152	FA2H	Benign/Likely benign	75856125	RCV000302904\|RCV001541455;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74748054	74748054	16:g.74748054C>T	ClinGen:CA8170291	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)	79152	FA2H	Conflicting interpretations of pathogenicity	758814013	RCV000995543\|RCV002068722\|RCV002550680;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74748088	74748088	16:g.74748088T>A	-
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	79152	FA2H	Conflicting interpretations of pathogenicity	140017632	RCV000357673\|RCV000517834\|RCV000827111\|RCV001086914;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74748094	74748094	NC_000016.9:g.74748094C>G	ClinGen:CA8170302	CN169374 not specified;
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)	79152	FA2H	Conflicting interpretations of pathogenicity	141854925	RCV000513492\|RCV000541410\|RCV001117253\|RCV001848878;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MONDO:MONDO:0	16	74748095	74748095	16:g.74748095G>A	ClinGen:CA8170303	CN517202 not provided;
NM_024306.5(FA2H):c.1101C>G (p.Pro367=)	79152	FA2H	Uncertain significance	1961640707	RCV001118889;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74748106	74748106	16:g.74748106G>C	-
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)	79152	FA2H	Benign/Likely benign	200545714	RCV000262979\|RCV000863033\|RCV001848662\|RCV002056508;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74748120	74748120	16:g.74748120T>G	ClinGen:CA8170305	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.1039+8T>C	79152	FA2H	Benign	6564160	RCV000117008\|RCV000318189\|RCV000462259\|RCV001847682;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74750237	74750237	16:g.74750237A>G	ClinGen:CA152806	CN169374 not specified;
NM_024306.5(FA2H):c.1032G>C (p.Gln344His)	79152	FA2H	Uncertain significance	779374650	RCV000372851;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750252	74750252	NC_000016.9:g.74750252C>G	ClinGen:CA8170330	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)	79152	FA2H	Uncertain significance	748697810	RCV000261199\|RCV002522889;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74750254	74750254	NC_000016.9:g.74750254G>C	ClinGen:CA8170331	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)	79152	FA2H	Pathogenic	774131656	RCV000995544;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750316	74750316	16:g.74750316G>A	-
NM_024306.5(FA2H):c.941_945del (p.Thr314fs)	79152	FA2H	Conflicting interpretations of pathogenicity	1961700181	RCV001345650\|RCV001780261;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750339	74750343	74750338	-
NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)	79152	FA2H	Likely pathogenic	1274600570	RCV000786060;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750350	74750350	16:g.74750350C>A	-
NM_024306.5(FA2H):c.933T>C (p.Tyr311=)	79152	FA2H	Benign	11554620	RCV000117014\|RCV000332680\|RCV000477048\|RCV001847687;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74750351	74750351	16:g.74750351A>G	ClinGen:CA152817	CN169374 not specified;
NM_024306.5(FA2H):c.911dup (p.Leu305fs)	79152	FA2H	Pathogenic	-1	RCV003405002;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750372	74750373		-
NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)	79152	FA2H	Likely pathogenic	1567632441	RCV000786061;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750374	74750374	16:g.74750374C>T	-
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)	79152	FA2H	Likely pathogenic	-1	RCV003335824;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750374	74750374		-
NM_024306.5(FA2H):c.888A>G (p.Val296=)	79152	FA2H	Benign	11554621	RCV000117013\|RCV000389521\|RCV001521975\|RCV001847686;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74750396	74750396	16:g.74750396T>C	ClinGen:CA152815	CN169374 not specified;
NM_024306.5(FA2H):c.879C>T (p.Pro293=)	79152	FA2H	Benign	2301865	RCV000117012\|RCV000292801\|RCV001510042\|RCV001847685;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74750405	74750405	16:g.74750405G>A	ClinGen:CA152813	CN169374 not specified;
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)	79152	FA2H	Benign/Likely benign	138244546	RCV000117011\|RCV000350126\|RCV000840125\|RCV001085749;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	16	74750437	74750437	NC_000016.9:g.74750437C>T	ClinGen:CA152811	CN169374 not specified;
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)	79152	FA2H	Conflicting interpretations of pathogenicity	199815871	RCV000383560\|RCV000416009\|RCV001080196\|RCV001848663\|RCV002307485;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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:0	16	74750440	74750440	NC_000016.9:g.74750440C>T	ClinGen:CA8170371	CN517202 not provided;
NM_024306.5(FA2H):c.844G>C (p.Gly282Arg)	79152	FA2H	Uncertain significance	-1	RCV002510707;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750440	74750440	NC_000016.9:g.74750440C>G	-
NM_024306.5(FA2H):c.822del (p.Val275fs)	79152	FA2H	Pathogenic	2144601954	RCV001391537;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750462	74750462	74750461	-
NM_024306.5(FA2H):c.821C>A (p.Pro274His)	79152	FA2H	Uncertain significance	1263931890	RCV002246190;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750463	74750463	74750463	-
NM_024306.5(FA2H):c.806G>A (p.Arg269His)	79152	FA2H	Pathogenic/Likely pathogenic	1429546236	RCV001219726\|RCV001250165\|RCV001819910\|RCV002282488;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN517202\|MONDO:MONDO:0	16	74750478	74750478	16:g.74750478C>T	-
NM_024306.5(FA2H):c.798C>T (p.Asp266=)	79152	FA2H	Conflicting interpretations of pathogenicity	771402018	RCV000868080\|RCV001120848;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750486	74750486	16:g.74750486G>A	-
NM_024306.5(FA2H):c.798C>G (p.Asp266Glu)	79152	FA2H	Likely pathogenic	771402018	RCV001542492;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74750486	74750486	74750486	-
NM_024306.5(FA2H):c.786+7G>A	79152	FA2H	Conflicting interpretations of pathogenicity	368669121	RCV001120849\|RCV002539009;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74752879	74752879	16:g.74752879C>T	-
NM_024306.5(FA2H):c.786+6C>T	79152	FA2H	Uncertain significance	746907255	RCV001120850\|RCV001368482;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74752880	74752880	16:g.74752880G>A	-
NM_024306.5(FA2H):c.786+1G>A	79152	FA2H	Pathogenic/Likely pathogenic	1567633766	RCV000001098\|RCV002512633;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN517202	16	74752885	74752885	NC_000016.9:g.74752885C>T	OMIM:611026.0001
NM_024306.5(FA2H):c.786G>A (p.Lys262=)	79152	FA2H	Pathogenic	-1	RCV002468706;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752886	74752886		-
NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)	79152	FA2H	Likely pathogenic	-1	RCV003388183;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752887	74752887		-
NM_024306.5(FA2H):c.782dup (p.His261fs)	79152	FA2H	Likely pathogenic	2144606157	RCV001542493;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752889	74752890	74752889	-
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser)	79152	FA2H	Uncertain significance	774693133	RCV000660385\|RCV001313033;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74752900	74752900	16:g.74752900C>T	-	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.771C>T (p.His257=)	79152	FA2H	Benign/Likely benign	371293493	RCV000611990\|RCV001120851\|RCV001848996\|RCV002066530;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74752901	74752901	16:g.74752901G>A	ClinGen:CA8170416	CN169374 not specified;
NM_024306.5(FA2H):c.716A>C (p.His239Pro)	79152	FA2H	Uncertain significance	-1	RCV003340959;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752956	74752956		-
NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)	79152	FA2H	Pathogenic	387907172	RCV000024321;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752965	74752965	16:g.74752965A>G	ClinGen:CA260036,OMIM:611026.0007	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	79152	FA2H	Conflicting interpretations of pathogenicity	387907039	RCV000023855\|RCV001797590\|RCV002509169;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN169374\|MedGen:CN517202	16	74752969	74752969	16:g.74752969G>A	ClinGen:CA259927,UniProtKB:Q7L5A8#VAR_064621,OMIM:611026.0003	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.699C>T (p.Ile233=)	79152	FA2H	Uncertain significance	906411491	RCV001120852;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752973	74752973	16:g.74752973G>A	-
NM_024306.5(FA2H):c.674T>C (p.Leu225Pro)	79152	FA2H	Pathogenic	-1	RCV002284305;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74752998	74752998	74752998	-
NM_024306.5(FA2H):c.659T>A (p.Met220Lys)	79152	FA2H	Uncertain significance	-1	RCV003388881;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74753013	74753013		-
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)	79152	FA2H	Conflicting interpretations of pathogenicity	775750642	RCV000226521\|RCV001391536\|RCV001731541\|RCV001848011;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN169374\|MONDO:MONDO:0	16	74753023	74753023	16:g.74753023C>T	ClinGen:CA8170441	C0037772 Spastic paraplegia;
NM_024306.5(FA2H):c.620C>T (p.Thr207Met)	79152	FA2H	Pathogenic/Likely pathogenic	372445274	RCV001195534\|RCV001542494\|RCV001859178;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	16	74753052	74753052	16:g.74753052G>A	-
NM_024306.5(FA2H):c.600G>A (p.Thr200=)	79152	FA2H	Conflicting interpretations of pathogenicity	774718977	RCV001115912\|RCV001455441;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74760136	74760136	16:g.74760136C>T	-
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)	79152	FA2H	Pathogenic/Likely pathogenic	1463651673	RCV001205551\|RCV002249795\|RCV003223418;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74760147	74760147	16:g.74760147G>A	-
NM_024306.5(FA2H):c.570C>A (p.Thr190=)	79152	FA2H	Conflicting interpretations of pathogenicity	138892784	RCV000291663\|RCV000633114\|RCV001697665;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	16	74760166	74760166	NC_000016.9:g.74760166G>T	ClinGen:CA8170484	CN169374 not specified;
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)	79152	FA2H	Pathogenic	765086319	RCV000190745\|RCV001847847\|RCV002470808;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74760171	74760171	16:g.74760171G>A	ClinGen:CA204774	C0950123 Inborn genetic diseases;
NM_024306.5(FA2H):c.540G>T (p.Val180=)	79152	FA2H	Conflicting interpretations of pathogenicity	150423523	RCV000344071\|RCV000865404;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74760196	74760196	NC_000016.9:g.74760196C>A	ClinGen:CA8170490	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.537G>A (p.Leu179=)	79152	FA2H	Benign/Likely benign	75711361	RCV000395355\|RCV000711623\|RCV001084328\|RCV001848664\|RCV001727685;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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:0	16	74760199	74760199	NC_000016.9:g.74760199C>T	ClinGen:CA8170491	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)	79152	FA2H	Likely pathogenic	863224870	RCV000199368;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74760219	74760219	16:g.74760219G>A	ClinGen:CA279015	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)	79152	FA2H	Pathogenic	587776891	RCV002513208\|RCV000023858;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74760225	74760226	NC_000016.9:g.74760226_74760227del	ClinGen:CA259931,OMIM:611026.0006	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.506+1G>C	79152	FA2H	Pathogenic/Likely pathogenic	753097023	RCV002249972\|RCV003094027;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74761141	74761141	74761141	-
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	79152	FA2H	Conflicting interpretations of pathogenicity	387907040	RCV000023857\|RCV000483483\|RCV002513207\|RCV003317044;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN517202\|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	16	74761188	74761188	16:g.74761188G>A	ClinGen:CA259930,UniProtKB:Q7L5A8#VAR_065245,OMIM:611026.0005	CN517202 not provided;
NM_024306.5(FA2H):c.429G>A (p.Glu143=)	79152	FA2H	Uncertain significance	886052290	RCV000304423;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74761219	74761219	NC_000016.9:g.74761219C>T	ClinGen:CA10638353	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.385C>T (p.Pro129Ser)	79152	FA2H	Uncertain significance	886052291	RCV000342958;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74761263	74761263	NC_000016.9:g.74761263G>A	ClinGen:CA10638356	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.340_363+8del	79152	FA2H	Pathogenic/Likely pathogenic	1597556143	RCV000989633\|RCV002549731;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74773913	74773944	16:g.74773913_74773944del	-
NM_024306.5(FA2H):c.363+2T>C	79152	FA2H	Likely pathogenic	-1	RCV003448934;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74773919	74773919		-
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)	79152	FA2H	Conflicting interpretations of pathogenicity	147632811	RCV000419332\|RCV000514460\|RCV001084384\|RCV001115913\|RCV001848010;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:1716	16	74773946	74773946	16:g.74773946C>T	ClinGen:CA8170581	CN517202 not provided;
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)	79152	FA2H	Conflicting interpretations of pathogenicity	141276237	RCV000633072\|RCV001115914\|RCV001712218\|RCV001821170\|RCV001848762\|RCV002524896;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900\|MedGen:CN1693	16	74773947	74773947	16:g.74773947G>A	ClinGen:CA8170582	CN169374 not specified;
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)	79152	FA2H	Benign/Likely benign	35874850	RCV000117010\|RCV000398455\|RCV000469053\|RCV001847684;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74773995	74773995	16:g.74773995G>C	ClinGen:CA152809,UniProtKB:Q7L5A8#VAR_037503	CN169374 not specified;
NM_024306.5(FA2H):c.271-8C>A	79152	FA2H	Conflicting interpretations of pathogenicity	199610820	RCV000862757\|RCV001088862\|RCV001117372;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74774021	74774021	16:g.74774021G>T	-
NM_024306.5(FA2H):c.271-106C>T	79152	FA2H	Uncertain significance	-1	RCV003330142;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74774119	74774119		-
NC_000016.10:g.74773969_74776493del	79152	FA2H	Likely pathogenic	-1	RCV003233341;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74807864	74810388		-
NM_024306.5(FA2H):c.266A>T (p.Gln89Leu)	79152	FA2H	Uncertain significance	1962971114	RCV001117373\|RCV003117764;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74808388	74808388	16:g.74808388T>A	-
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)	79152	FA2H	Conflicting interpretations of pathogenicity	527421775	RCV000303256\|RCV001171919\|RCV001246003\|RCV001848665\|RCV002222486\|RCV002522890;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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:0	16	74808422	74808422	NC_000016.9:g.74808422C>T	ClinGen:CA8170617	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.229C>T (p.Leu77=)	79152	FA2H	Benign	929881	RCV000117009\|RCV000355693\|RCV001510043\|RCV001847683;	N	MedGen:CN169374\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|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	16	74808425	74808425	16:g.74808425G>A	ClinGen:CA152807	CN169374 not specified;
NM_024306.5(FA2H):c.207C>G (p.His69Gln)	79152	FA2H	Uncertain significance	997310209	RCV000761510;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808447	74808447	NC_000016.9:g.74808447G>C	-
NM_024306.5(FA2H):c.205C>T (p.His69Tyr)	79152	FA2H	Uncertain significance	1057519235	RCV000416271\|RCV000529889\|RCV000660639;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808449	74808449	16:g.74808449G>A	ClinGen:CA16043885	CN517202 not provided;
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)	79152	FA2H	Conflicting interpretations of pathogenicity	750198250	RCV001329950\|RCV001724297\|RCV001373220;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74808452	74808452	74808452	-
NM_024306.5(FA2H):c.201C>G (p.His67Gln)	79152	FA2H	Uncertain significance	-1	RCV003388737;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808453	74808453		-
NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)	79152	FA2H	Pathogenic	1410690526	RCV001391535;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808464	74808464	74808464	-
NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)	79152	FA2H	Pathogenic	759947457	RCV000023856\|RCV002293414\|RCV002513206;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74808478	74808495	16:g.74808478_74808495del	ClinGen:CA259928,OMIM:611026.0004	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.160_169del (p.Ala54fs)	79152	FA2H	Likely pathogenic	794729214	RCV000989634;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808485	74808494	16:g.74808485_74808494del	-
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)	79152	FA2H	Conflicting interpretations of pathogenicity	1057518032	RCV000413571\|RCV001336096\|RCV001337611;	N	MedGen:CN517202\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	16	74808515	74808515	16:g.74808515C>T	ClinGen:CA16043088	CN517202 not provided;
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)	79152	FA2H	Likely pathogenic	1247665387	RCV000708595;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808521	74808521	16:g.74808521C>A	-	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.131del (p.Pro44fs)	79152	FA2H	Pathogenic	2144672539	RCV001580616;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808523	74808523	74808522	-
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)	79152	FA2H	Likely pathogenic	1268722908	RCV000520744\|RCV003155224;	N	MedGen:CN517202\|MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808524	74808524	16:g.74808524G>A	ClinGen:CA396768354	CN517202 not provided;
NM_024306.5(FA2H):c.115_121del (p.Phe39fs)	79152	FA2H	Likely pathogenic	2144672568	RCV002246191;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808533	74808539	74808532	-
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	79152	FA2H	Conflicting interpretations of pathogenicity	121918217	RCV000001099;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808551	74808551	16:g.74808551C>A	ClinGen:CA251671,UniProtKB:Q7L5A8#VAR_054893,OMIM:611026.0002	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)	79152	FA2H	Pathogenic	957683798	RCV000578281;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808552	74808552	16:g.74808552G>C	ClinGen:CA283770055	C3668943 612319 Spastic paraplegia 35;
NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)	79152	FA2H	Uncertain significance	978032580	RCV000474966\|RCV001117374\|RCV001848804;	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:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MONDO:MONDO:0019064,MedGen:C0	16	74808560	74808560	NC_000016.9:g.74808560G>C	ClinGen:CA16614992	C0037772 Spastic paraplegia;
NM_024306.5(FA2H):c.75C>G (p.Cys25Trp)	79152	FA2H	Uncertain significance	-1	RCV002289137;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808579	74808579	74808579	-
NM_024306.4(FA2H):c.-74C>T	79152	FA2H	Uncertain significance	886052292	RCV000263230;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629	16	74808727	74808727	NC_000016.9:g.74808727G>A	ClinGen:CA10638358	C3668943 612319 Spastic paraplegia 35;
NM_024306.4(FA2H):c.-84G>C	79152	FA2H	Benign	8056865	RCV000262423\|RCV000839866;	N	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319, Orphanet:171629\|MedGen:C3661900	16	74808737	74808737	16:g.74808737C>G	ClinGen:CA10654546	C3668943 612319 Spastic paraplegia 35;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen