MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

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: Epilepsies, Myoclonic (D004831)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
Child Nodes:
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29 C:2
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164 C:3
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Mental Retardation, X-Linked (D038901) 134 C:4
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13 C:1
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30 C:5
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85 C:4
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4570

Name:

Familial encephalopathy with neuroserpin inclusion bodies

Definition:

Alternative IDs:

DO:DOID:0050831|OMIM:604218

ParentIDs:

MESH:D004831|MESH:D020271

TreeNumbers:

C10.228.140.490.375.130/C536841 |C10.228.140.490.493.063/C536841 |C10.574.500/C536841 |C16.320.400/C536841

Synonyms:

Encephalopathy, familial, with Collins bodies |Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |Familial Dementia with Neuroserpin Inclusion Bodies |FENIB

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C536841
MeSH: C536841
OMIM: 604218;
MSeqDR :
Genes: SERPINI1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002071	Abnormality of extrapyramidal motor function
3	HP:0002059	Cerebral atrophy
4	HP:0000726	Dementia NAMDC: Dementia
5	HP:0000651	Diplopia
6	HP:0002936	Distal sensory impairment
7	HP:0001260	Dysarthria NAMDC: Dysarthria
8	HP:0001298	Encephalopathy NAMDC: Encephalopathy (At least one neurological manifestation marked with an *)
9	HP:0002171	Gliosis
10	HP:0001336	Myoclonus NAMDC: Myoclonus
11	HP:0002529	Neuronal loss in central nervous system
12	HP:0000639	Nystagmus
13	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_007217.4(PDCD10):c.-438G>C	-1	PDCD10;SERPINI1	Conflicting interpretations of pathogenicity	rs546722173	RCV000280104\|RCV000337520;	N	Human Phenotype Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860, Orphanet:164, Orphanet:221061\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167452634	167452634	3:g.167452634C>G	ClinGen:CA10654658	C2919945 116860 Cerebral cavernous malformation;
NM_001122752.2(SERPINI1):c.-19+92G>A	-1	PDCD10;SERPINI1	Benign	rs9835352	RCV000386276\|RCV000406577;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MONDO:MONDO:0011305,MedGen:C1864040,OMIM:603285, Orphanet:221061	3	167453703	167453703	3:g.167453703G>A	ClinGen:CA10615280	C2919945 116860 Cerebral cavernous malformation;
NC_000003.12:g.(?_167684288)_(167825343_?)dup	5274	SERPINI1	Uncertain significance	-1	RCV001033883;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167402076	167543131	-1	-
NC_000003.11:g.(?_167402096)_(167543111_?)dup	5274	SERPINI1	Uncertain significance	-1	RCV001931720;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167402096	167543111	-1	-
NC_000003.11:g.167452991T>C	5274	SERPINI1	Benign	-1	RCV001518451;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167452991	167452991	167452991	-
NC_000003.11:g.167453039T>C	5274	SERPINI1	Benign	-1	RCV001518452;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453039	167453039	167453039	-
NM_001122752.2(SERPINI1):c.-84GGAGC[3]	5274	SERPINI1	Uncertain significance	rs886058165	RCV000371190;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453541	167453542	3:g.167453541_167453542insGAGCG	ClinGen:CA10615781	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.-23G>A	5274	SERPINI1	Uncertain significance	rs886058166	RCV000276613;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453607	167453607	3:g.167453607G>A	ClinGen:CA10615785	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.-19+6C>T	5274	SERPINI1	Uncertain significance	rs562830304	RCV001146714;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453617	167453617	3:g.167453617C>T	-
NM_001122752.2(SERPINI1):c.-19+22G>T	5274	SERPINI1	Uncertain significance	rs1559989168	RCV001146715;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453633	167453633	3:g.167453633G>T	-
NM_001122752.2(SERPINI1):c.-19+48C>T	5274	SERPINI1	Uncertain significance	rs886058167	RCV000331710;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167453659	167453659	3:g.167453659C>T	ClinGen:CA10615275	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001948969;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506920	167506920	167506920	-
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)	5274	SERPINI1	Uncertain significance	-1	RCV002885516;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506921	167506921	NC_000003.11:g.167506921C>T	-
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe)	5274	SERPINI1	Uncertain significance	-1	RCV001360349;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506926	167506926	167506926	-
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)	5274	SERPINI1	Uncertain significance	-1	RCV003054488;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506930	167506930	NC_000003.11:g.167506930G>T	-
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=)	5274	SERPINI1	Likely benign	-1	RCV002184778;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506934	167506934	167506934	-
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001881954;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506936	167506936	167506936	-
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu)	5274	SERPINI1	Benign	rs33917740	RCV000326135\|RCV001580080\|RCV001691979;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN169374\|MedGen:CN517202	3	167506937	167506937	NC_000003.11:g.167506937C>G	ClinGen:CA2694709	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile)	5274	SERPINI1	Uncertain significance	-1	RCV001994091;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506947	167506947	167506947	-
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)	5274	SERPINI1	Uncertain significance	-1	RCV003084113;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506948	167506948	NC_000003.11:g.167506948T>C	-
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly)	5274	SERPINI1	Benign	rs61735307	RCV000380725\|RCV000518477;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN169374	3	167506956	167506956	NC_000003.11:g.167506956A>G	ClinGen:CA2694710	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)	5274	SERPINI1	Uncertain significance	-1	RCV002297977;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506957	167506957	167506957	-
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val)	5274	SERPINI1	Uncertain significance	-1	RCV002026150;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506959	167506959	167506959	-
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val)	5274	SERPINI1	Uncertain significance	-1	RCV001929145;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506963	167506963	167506963	-
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=)	5274	SERPINI1	Benign	rs34582040	RCV000286297\|RCV001691980\|RCV001579670;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202\|MedGen:CN169374	3	167506967	167506967	NC_000003.11:g.167506967A>G	ClinGen:CA2694716	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala)	5274	SERPINI1	Uncertain significance	rs577994777	RCV000804591;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506969	167506969	3:g.167506969G>C	-
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr)	5274	SERPINI1	Uncertain significance	rs1344969234	RCV001050659;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506971	167506971	3:g.167506971G>A	-
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)	5274	SERPINI1	Uncertain significance	-1	RCV002305316;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506972	167506972	167506972	-
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)	5274	SERPINI1	Uncertain significance	rs1727413504	RCV001227722;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506976	167506977	3:g.167506976_167506977insTTCCC	-
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu)	5274	SERPINI1	Uncertain significance	-1	RCV002023425\|RCV002548829;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167506977	167506977	167506977	-
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)	5274	SERPINI1	Uncertain significance	-1	RCV002300054;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506985	167506985	167506985	-
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)	5274	SERPINI1	Uncertain significance	-1	RCV002663102;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506990	167506990	NC_000003.11:g.167506990C>T	-
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)	5274	SERPINI1	Conflicting interpretations of pathogenicity	rs372678518	RCV001224483\|RCV001579795\|RCV002563053;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	167506992	167506992	3:g.167506992A>G	-
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr)	5274	SERPINI1	Benign	rs146948408	RCV000224023\|RCV000322804;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167506993	167506993	3:g.167506993T>C	ClinGen:CA2694730	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)	5274	SERPINI1	Likely benign	-1	RCV001417777;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507000	167507000	167507000	-
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=)	5274	SERPINI1	Likely benign	-1	RCV002147895;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507006	167507006	167507006	-
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser)	5274	SERPINI1	Uncertain significance	rs1172732406	RCV001150945;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507011	167507011	3:g.167507011A>G	-
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)	5274	SERPINI1	Benign/Likely benign	rs61735306	RCV000377466\|RCV001579565;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202	3	167507022	167507022	NC_000003.11:g.167507022C>A	ClinGen:CA2694733	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys)	5274	SERPINI1	Uncertain significance	rs61735306	RCV000553109;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507022	167507022	3:g.167507022C>T	ClinGen:CA87835648	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His)	5274	SERPINI1	Uncertain significance	rs780236670	RCV001352170;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507023	167507023	167507023	-
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe)	5274	SERPINI1	Uncertain significance	rs1727416167	RCV001302643;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507025	167507025	167507025	-
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr)	5274	SERPINI1	Uncertain significance	-1	RCV001991545;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507031	167507031	167507031	-
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp)	5274	SERPINI1	Uncertain significance	-1	RCV001874867;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507049	167507049	167507049	-
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr)	5274	SERPINI1	Uncertain significance	-1	RCV001884402;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507053	167507053	167507053	-
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)	5274	SERPINI1	Uncertain significance	-1	RCV002651761;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507056	167507056	NC_000003.11:g.167507056T>C	-
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu)	5274	SERPINI1	Uncertain significance	-1	RCV001369209;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507060	167507060	167507060	-
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro)	5274	SERPINI1	Pathogenic	rs121909051	RCV000007502;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507061	167507061	3:g.167507061T>C	UniProtKB:Q99574#VAR_008520,OMIM:602445.0001,ClinGen:CA118615	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)	5274	SERPINI1	Likely benign	-1	RCV002217989;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507063	167507063	167507063	-
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001980355;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507068	167507068	167507068	-
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg)	5274	SERPINI1	Pathogenic	rs1577418477	RCV000007503;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507070	167507070	3:g.167507070A>C	OMIM:602445.0002	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)	5274	SERPINI1	Uncertain significance	-1	RCV002301502;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507074	167507074	167507074	-
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val)	5274	SERPINI1	Uncertain significance	rs769948709	RCV000282982;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507077	167507077	NC_000003.11:g.167507077C>T	ClinGen:CA2694739	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser)	5274	SERPINI1	Uncertain significance	rs1050971384	RCV000546410;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507082	167507082	3:g.167507082G>T	ClinGen:CA87835651	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)	5274	SERPINI1	Uncertain significance	rs1727418833	RCV001224871;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507091	167507091	3:g.167507091A>G	-
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63_Ala64=)	5274	SERPINI1	Likely benign	-1	RCV002837879;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507105	167507105	NC_000003.11:g.167507105G>A	-
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)	5274	SERPINI1	Likely benign	-1	RCV001479311;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507108	167507108	167507108	-
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)	5274	SERPINI1	Likely benign	-1	RCV001475287;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507114	167507114	167507114	-
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr)	5274	SERPINI1	Uncertain significance	rs1577418542	RCV000803017;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507116	167507116	3:g.167507116C>A	-
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)	5274	SERPINI1	Uncertain significance	rs1577418551	RCV001240315;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507119	167507119	3:g.167507119C>A	-
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)	5274	SERPINI1	Benign/Likely benign	rs11547811	RCV000558814;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507124	167507124	3:g.167507124A>G	ClinGen:CA2694746	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)	5274	SERPINI1	Likely benign	rs369596299	RCV000531160;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507133	167507133	NC_000003.11:g.167507133C>T	ClinGen:CA2694748	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly)	5274	SERPINI1	Uncertain significance	-1	RCV001370572;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507133	167507133	167507133	-
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His)	5274	SERPINI1	Benign	rs139808176	RCV000337987;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507134	167507134	NC_000003.11:g.167507134G>A	ClinGen:CA2694749	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp)	5274	SERPINI1	Uncertain significance	rs1445299347	RCV001323416;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507136	167507136	167507136	-
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg)	5274	SERPINI1	Uncertain significance	rs757918199	RCV000793394;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507137	167507137	3:g.167507137A>G	-
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)	5274	SERPINI1	Uncertain significance	-1	RCV003067042\|RCV003067041;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507144	167507144	NC_000003.11:g.167507144G>A	-
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg)	5274	SERPINI1	Uncertain significance	-1	RCV001995096;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507156	167507156	167507156	-
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)	5274	SERPINI1	Uncertain significance	rs150681002	RCV000642683;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507164	167507164	NC_000003.11:g.167507164A>T	ClinGen:CA2694753	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.250+5G>A	5274	SERPINI1	Uncertain significance	rs1447537890	RCV001039437;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507171	167507171	3:g.167507171G>A	-
NM_001122752.2(SERPINI1):c.250+9G>A	5274	SERPINI1	Likely benign	-1	RCV002185419;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507175	167507175	167507175	-
NM_001122752.2(SERPINI1):c.250+11T>C	5274	SERPINI1	Likely benign	-1	RCV003064516;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507177	167507177	NC_000003.11:g.167507177T>C	-
NM_001122752.2(SERPINI1):c.250+13A>G	5274	SERPINI1	Benign	rs77880879	RCV001150946;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507179	167507179	3:g.167507179A>G	-
NM_001122752.2(SERPINI1):c.250+14G>C	5274	SERPINI1	Likely benign	-1	RCV002179487;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167507180	167507180	167507180	-
NM_001122752.2(SERPINI1):c.251-18T>C	5274	SERPINI1	Likely benign	-1	RCV002108870;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508142	167508142	167508142	-
NM_001122752.2(SERPINI1):c.251-10C>G	5274	SERPINI1	Benign	-1	RCV001520843;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508150	167508150	167508150	-
NM_001122752.2(SERPINI1):c.251-7C>T	5274	SERPINI1	Likely benign	-1	RCV001408504;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508153	167508153	167508153	-
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)	5274	SERPINI1	Uncertain significance	-1	RCV002957451;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508169	167508169	NC_000003.11:g.167508169T>C	-
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)	5274	SERPINI1	Conflicting interpretations of pathogenicity	rs781486255	RCV000405141;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508190	167508190	NC_000003.11:g.167508190C>T	ClinGen:CA2694771	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val)	5274	SERPINI1	Uncertain significance	rs372528371	RCV000642681\|RCV002544669;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167508195	167508195	NC_000003.11:g.167508195A>G	ClinGen:CA2694772	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)	5274	SERPINI1	Uncertain significance	-1	RCV002750202;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508196	167508196	NC_000003.11:g.167508196T>C	-
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)	5274	SERPINI1	Benign/Likely benign	rs61750375	RCV000279563\|RCV000440327;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202	3	167508198	167508198	NC_000003.11:g.167508198G>A	ClinGen:CA2694773	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=)	5274	SERPINI1	Benign	rs61761891	RCV000536912;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508206	167508206	NC_000003.11:g.167508206T>G	ClinGen:CA2694774	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)	5274	SERPINI1	Likely benign	-1	RCV001497327;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508206	167508206	167508206	-
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)	5274	SERPINI1	Uncertain significance	rs749315755	RCV001304076;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508211	167508211	167508211	-
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101_Ser102=)	5274	SERPINI1	Likely benign	-1	RCV002572682;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508212	167508212	NC_000003.11:g.167508212G>A	-
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)	5274	SERPINI1	Likely benign	-1	RCV001419523;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508215	167508215	167508215	-
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe)	5274	SERPINI1	Uncertain significance	rs1727464670	RCV001312698;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508220	167508220	167508220	-
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)	5274	SERPINI1	Uncertain significance	-1	RCV002811045;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508222	167508222	NC_000003.11:g.167508222G>A	-
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)	5274	SERPINI1	Uncertain significance	rs1727465258	RCV001217387;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508225	167508225	3:g.167508225A>G	-
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys)	5274	SERPINI1	Uncertain significance	-1	RCV001966110;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508226	167508226	167508226	-
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe)	5274	SERPINI1	Uncertain significance	rs769602150	RCV001042566;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508241	167508241	3:g.167508241C>T	-
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe)	5274	SERPINI1	Uncertain significance	-1	RCV001884756;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508245	167508245	167508245	-
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met)	5274	SERPINI1	Likely benign	rs61735308	RCV000549106\|RCV002528408;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167508249	167508249	3:g.167508249G>A	ClinGen:CA2694784	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu)	5274	SERPINI1	Uncertain significance	rs61735308	RCV001339551;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508249	167508249	167508249	-
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=)	5274	SERPINI1	Likely benign	-1	RCV001473697;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508251	167508251	167508251	-
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu)	5274	SERPINI1	Uncertain significance	rs1727467568	RCV001343285;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508259	167508259	167508259	-
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)	5274	SERPINI1	Uncertain significance	-1	RCV002653171;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508261	167508261	NC_000003.11:g.167508261T>C	-
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=)	5274	SERPINI1	Likely benign	-1	RCV002213554;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508281	167508281	167508281	-
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln)	5274	SERPINI1	Uncertain significance	rs967193064	RCV000816179;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508297	167508297	3:g.167508297A>C	-
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=)	5274	SERPINI1	Likely benign	-1	RCV001427608;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508311	167508311	167508311	-
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val)	5274	SERPINI1	Benign/Likely benign	rs746127233	RCV000334633;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508313	167508313	NC_000003.11:g.167508313C>T	ClinGen:CA2694795	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser)	5274	SERPINI1	Uncertain significance	rs886058168	RCV000403236;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508319	167508319	NC_000003.11:g.167508319A>G	ClinGen:CA10617692	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.414T>C (p.His138=)	5274	SERPINI1	Likely benign	rs758630825	RCV000930323\|RCV001079632;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508323	167508323	3:g.167508323T>C	-
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)	5274	SERPINI1	Uncertain significance	-1	RCV002982851;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508331	167508334	NC_000003.11:g.167508334_167508337del	-
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)	5274	SERPINI1	Uncertain significance	-1	RCV002663327;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508336	167508336	NC_000003.11:g.167508336C>T	-
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=)	5274	SERPINI1	Benign	rs140116256	RCV000315121\|RCV001579788;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202	3	167508341	167508341	NC_000003.11:g.167508341T>C	ClinGen:CA2694798	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=)	5274	SERPINI1	Likely benign	-1	RCV001415445;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508347	167508347	167508347	-
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met)	5274	SERPINI1	Uncertain significance	rs772999261	RCV000697708;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508348	167508348	3:g.167508348G>A	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=)	5274	SERPINI1	Likely benign	rs1577419314	RCV000978026\|RCV001413166;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508350	167508350	3:g.167508350G>T	-
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)	5274	SERPINI1	Uncertain significance	-1	RCV002903040;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508355	167508355	NC_000003.11:g.167508355A>C	-
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe)	5274	SERPINI1	Uncertain significance	-1	RCV001918249;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508358	167508358	167508358	-
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys)	5274	SERPINI1	Uncertain significance	rs759200368	RCV001043516;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508365	167508365	3:g.167508365T>G	-
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter)	5274	SERPINI1	Uncertain significance	rs1727473660	RCV001325506;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508371	167508371	167508371	-
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val)	5274	SERPINI1	Uncertain significance	-1	RCV001976042;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508376	167508376	167508376	-
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser)	5274	SERPINI1	Conflicting interpretations of pathogenicity	rs767144751	RCV000550303\|RCV002526149;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167508382	167508382	3:g.167508382A>G	ClinGen:CA2694805	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.481+4T>C	5274	SERPINI1	Uncertain significance	-1	RCV001972227;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508394	167508394	167508394	-
NM_001122752.2(SERPINI1):c.481+8A>G	5274	SERPINI1	Likely benign	-1	RCV002597375;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508398	167508398	NC_000003.11:g.167508398A>G	-
NM_001122752.2(SERPINI1):c.481+13G>A	5274	SERPINI1	Likely benign	-1	RCV002899436;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167508403	167508403	NC_000003.11:g.167508403G>A	-
NM_001122752.2(SERPINI1):c.482-20A>G	5274	SERPINI1	Benign	-1	RCV002156552;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510358	167510358	167510358	-
NM_001122752.2(SERPINI1):c.482-10dup	5274	SERPINI1	Benign	-1	RCV002177861;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510362	167510363	167510362	-
NM_001122752.2(SERPINI1):c.482-7del	5274	SERPINI1	Likely benign	-1	RCV001443977;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510371	167510371	167510370	-
NM_001122752.2(SERPINI1):c.482-6A>C	5274	SERPINI1	Likely benign	-1	RCV001454650;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510372	167510372	167510372	-
NM_001122752.2(SERPINI1):c.482-5A>G	5274	SERPINI1	Uncertain significance	-1	RCV002031835;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510373	167510373	167510373	-
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile)	5274	SERPINI1	Uncertain significance	rs1553774731	RCV000524880;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510378	167510378	3:g.167510378A>T	ClinGen:CA355156431	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)	5274	SERPINI1	Uncertain significance	-1	RCV003003317;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510383	167510383	NC_000003.11:g.167510383G>A	-
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn)	5274	SERPINI1	Uncertain significance	rs1453020878	RCV001321207;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510389	167510389	167510389	-
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=)	5274	SERPINI1	Likely benign	-1	RCV001478805;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510392	167510392	167510392	-
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)	5274	SERPINI1	Uncertain significance	-1	RCV002681642;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510398	167510398	NC_000003.11:g.167510398T>A	-
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)	5274	SERPINI1	Uncertain significance	rs774989939	RCV000691347;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510404	167510404	NC_000003.11:g.167510404A>G	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly)	5274	SERPINI1	Benign/Likely benign	rs61735309	RCV000367431\|RCV000514114;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202	3	167510414	167510414	NC_000003.11:g.167510414A>G	ClinGen:CA2694830	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val)	5274	SERPINI1	Uncertain significance	-1	RCV001995711;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510417	167510417	167510417	-
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val)	5274	SERPINI1	Uncertain significance	rs1727567949	RCV001144850;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510420	167510420	3:g.167510420C>T	-
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala)	5274	SERPINI1	Uncertain significance	rs762427588	RCV000705876;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510422	167510422	NC_000003.11:g.167510422A>G	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)	5274	SERPINI1	Uncertain significance	-1	RCV002842715;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510426	167510426	NC_000003.11:g.167510426A>C	-
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=)	5274	SERPINI1	Likely benign	rs1577420587	RCV000976795;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510448	167510448	3:g.167510448C>A	-
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)	5274	SERPINI1	Uncertain significance	-1	RCV003093113;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510450	167510450	NC_000003.11:g.167510450A>G	-
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser)	5274	SERPINI1	Uncertain significance	rs566381455	RCV001234665;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510462	167510462	3:g.167510462A>G	-
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=)	5274	SERPINI1	Likely benign	rs1553774750	RCV000642686;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510469	167510469	NC_000003.11:g.167510469G>A	ClinGen:CA436846985	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu)	5274	SERPINI1	Uncertain significance	rs777452195	RCV001323579;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510471	167510471	167510471	-
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=)	5274	SERPINI1	Benign	rs2229697	RCV000395296\|RCV001579708\|RCV001618611;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN169374\|MedGen:CN517202	3	167510472	167510472	NC_000003.11:g.167510472G>A	ClinGen:CA2694839	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192_Gln193=)	5274	SERPINI1	Likely benign	-1	RCV002721270;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510472	167510472	NC_000003.11:g.167510472G>C	-
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=)	5274	SERPINI1	Likely benign	-1	RCV001460561;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510478	167510478	167510478	-
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=)	5274	SERPINI1	Likely benign	-1	RCV001397279;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510481	167510481	167510481	-
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser)	5274	SERPINI1	Uncertain significance	rs1443427135	RCV001253179;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510482	167510482	3:g.167510482C>T	-
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile)	5274	SERPINI1	Uncertain significance	-1	RCV001979196;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510492	167510492	167510492	-
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001998421;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510498	167510498	167510498	-
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile)	5274	SERPINI1	Uncertain significance	rs1296179457	RCV001326471;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510525	167510525	167510525	-
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)	5274	SERPINI1	Uncertain significance	-1	RCV002653550;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510525	167510525	NC_000003.11:g.167510525G>A	-
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)	5274	SERPINI1	Uncertain significance	-1	RCV003072426;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510542	167510542	NC_000003.11:g.167510542A>G	-
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys)	5274	SERPINI1	Uncertain significance	rs1727575153	RCV001339192;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510570	167510570	167510570	-
NM_001122752.2(SERPINI1):c.676+14dup	5274	SERPINI1	Benign	-1	RCV002963225;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510580	167510581	NC_000003.11:g.167510586dup	-
NM_001122752.2(SERPINI1):c.676+8del	5274	SERPINI1	Likely benign	-1	RCV003034069;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510580	167510580	NC_000003.11:g.167510580del	-
NM_001122752.2(SERPINI1):c.676+8A>C	5274	SERPINI1	Likely benign	-1	RCV003049675;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510580	167510580	NC_000003.11:g.167510580A>C	-
NM_001122752.2(SERPINI1):c.676+10T>C	5274	SERPINI1	Likely benign	-1	RCV002861436;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167510582	167510582	NC_000003.11:g.167510582T>C	-
NM_001122752.2(SERPINI1):c.677-20G>A	5274	SERPINI1	Likely benign	-1	RCV001986573;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512388	167512388	167512388	-
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=)	5274	SERPINI1	Likely benign	-1	RCV001403589;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512412	167512412	167512412	-
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=)	5274	SERPINI1	Likely benign	rs557897218	RCV000550076\|RCV001445287;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512415	167512415	3:g.167512415T>C	ClinGen:CA2694869	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala)	5274	SERPINI1	Uncertain significance	-1	RCV002010771;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512425	167512425	167512425	-
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)	5274	SERPINI1	Uncertain significance	-1	RCV003005608;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512431	167512431	NC_000003.11:g.167512431G>C	-
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser)	5274	SERPINI1	Uncertain significance	rs774334657	RCV001246094;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512434	167512434	3:g.167512434G>T	-
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=)	5274	SERPINI1	Likely benign	rs775700678	RCV000945873\|RCV001484199;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512448	167512448	3:g.167512448C>T	-
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242_Glu243=)	5274	SERPINI1	Likely benign	-1	RCV002805405;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512457	167512457	NC_000003.11:g.167512457A>G	-
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr)	5274	SERPINI1	Uncertain significance	-1	RCV001957350;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512462	167512462	167512462	-
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=)	5274	SERPINI1	Likely benign	-1	RCV001460047;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512469	167512469	167512469	-
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=)	5274	SERPINI1	Likely benign	-1	RCV002085072;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512478	167512478	167512478	-
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val)	5274	SERPINI1	Uncertain significance	rs1553774954	RCV000642685;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512482	167512482	NC_000003.11:g.167512482A>G	ClinGen:CA355157056	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)	5274	SERPINI1	Uncertain significance	-1	RCV002649461;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512485	167512485	NC_000003.11:g.167512485A>G	-
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu)	5274	SERPINI1	Uncertain significance	rs1553774956	RCV000525804;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512491	167512491	3:g.167512491A>C	ClinGen:CA355157079	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro)	5274	SERPINI1	Uncertain significance	rs1466251791	RCV001042016;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512501	167512501	3:g.167512501T>C	-
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys)	5274	SERPINI1	Uncertain significance	rs780784169	RCV001298379;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512509	167512509	167512509	-
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001997646;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512518	167512518	167512518	-
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala)	5274	SERPINI1	Uncertain significance	rs1210708843	RCV001323417;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512527	167512527	167512527	-
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr)	5274	SERPINI1	Likely benign	rs778331359	RCV000555514;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512548	167512548	NC_000003.11:g.167512548G>A	ClinGen:CA2694886	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val)	5274	SERPINI1	Uncertain significance	-1	RCV001893327;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512549	167512549	167512549	-
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)	5274	SERPINI1	Uncertain significance	-1	RCV002013740\|RCV002246654;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN169374	3	167512560	167512560	167512560	-
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr)	5274	SERPINI1	Benign	rs55872908	RCV000309204\|RCV000992922\|RCV001579339;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MedGen:CN517202\|MedGen:CN169374	3	167512569	167512569	3:g.167512569G>A	ClinGen:CA2694888	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)	5274	SERPINI1	Uncertain significance	-1	RCV002766064;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512569	167512569	NC_000003.11:g.167512569G>T	-
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His)	5274	SERPINI1	Uncertain significance	rs151212615	RCV001321577;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512572	167512572	167512572	-
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys)	5274	SERPINI1	Uncertain significance	rs1553774967	RCV000540311;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512574	167512574	3:g.167512574C>G	ClinGen:CA355157259	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)	5274	SERPINI1	Uncertain significance	-1	RCV002975911\|RCV002975912;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167512575	167512575	NC_000003.11:g.167512575T>G	-
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282_Val283=)	5274	SERPINI1	Likely benign	-1	RCV003012160;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512577	167512577	NC_000003.11:g.167512577T>C	-
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr)	5274	SERPINI1	Uncertain significance	rs772141992	RCV000700252;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512585	167512585	NC_000003.11:g.167512585A>C	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg)	5274	SERPINI1	Uncertain significance	-1	RCV001887545;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512585	167512585	167512585	-
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile)	5274	SERPINI1	Uncertain significance	rs760906938	RCV001226275;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512593	167512593	3:g.167512593G>A	-
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)	5274	SERPINI1	Uncertain significance	-1	RCV003136568;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512594	167512594	NC_000003.11:g.167512594T>C	-
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)	5274	SERPINI1	Uncertain significance	-1	RCV003023736;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512605	167512605	NC_000003.11:g.167512605C>A	-
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=)	5274	SERPINI1	Likely benign	-1	RCV001474419;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512607	167512607	167512607	-
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293_Arg294=)	5274	SERPINI1	Likely benign	-1	RCV003002458;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512610	167512610	NC_000003.11:g.167512610C>T	-
NM_001122752.2(SERPINI1):c.881+4T>G	5274	SERPINI1	Uncertain significance	rs766034834	RCV000814090;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512616	167512616	3:g.167512616T>G	-
NM_001122752.2(SERPINI1):c.881+10T>G	5274	SERPINI1	Benign	rs113533056	RCV000552771;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512622	167512622	3:g.167512622T>G	ClinGen:CA2694899	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.881+13T>G	5274	SERPINI1	Likely benign	-1	RCV002158254;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512625	167512625	167512625	-
NM_001122752.2(SERPINI1):c.881+15T>G	5274	SERPINI1	Likely benign	-1	RCV002198387;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167512627	167512627	167512627	-
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys)	5274	SERPINI1	Uncertain significance	-1	RCV002023308;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525042	167525042	167525042	-
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys)	5274	SERPINI1	Uncertain significance	rs1711680491	RCV001319173;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525048	167525048	167525048	-
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn)	5274	SERPINI1	Uncertain significance	-1	RCV001937814;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525054	167525054	167525054	-
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala)	5274	SERPINI1	Uncertain significance	rs756818970	RCV000642684;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525064	167525064	NC_000003.11:g.167525064A>C	ClinGen:CA355157433	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val)	5274	SERPINI1	Uncertain significance	rs756818970	RCV001046357;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525064	167525064	3:g.167525064A>T	-
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala)	5274	SERPINI1	Conflicting interpretations of pathogenicity	rs779353952	RCV001048000\|RCV002553175;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|MeSH:D030342,MedGen:C0950123	3	167525067	167525067	3:g.167525067T>C	-
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr)	5274	SERPINI1	Uncertain significance	rs201695047	RCV001304376;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525073	167525073	167525073	-
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)	5274	SERPINI1	Uncertain significance	-1	RCV003054869;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525079	167525079	NC_000003.11:g.167525079T>G	-
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=)	5274	SERPINI1	Likely benign	-1	RCV002174404;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525107	167525107	167525107	-
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly)	5274	SERPINI1	Uncertain significance	rs886058169	RCV000366113;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525109	167525109	NC_000003.11:g.167525109C>G	ClinGen:CA10615284	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys)	5274	SERPINI1	Uncertain significance	rs1711682663	RCV001342493;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525113	167525113	167525113	-
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp)	5274	SERPINI1	Uncertain significance	rs1271122328	RCV001301595;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525115	167525115	167525115	-
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=)	5274	SERPINI1	Likely benign	-1	RCV001484198;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525122	167525122	167525122	-
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)	5274	SERPINI1	Uncertain significance	-1	RCV002875564;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525124	167525124	NC_000003.11:g.167525124T>G	-
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=)	5274	SERPINI1	Likely benign	-1	RCV002088890;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525125	167525125	167525125	-
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu)	5274	SERPINI1	Uncertain significance	-1	RCV001935261;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525126	167525127	167525126	-
NM_001122752.2(SERPINI1):c.979+4A>C	5274	SERPINI1	Uncertain significance	-1	RCV002592014;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167525133	167525133	NC_000003.11:g.167525133A>C	-
NC_000003.12:g.(?_167822966)_(167825343_?)del	5274	SERPINI1	Uncertain significance	-1	RCV001033645;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540754	167543131	-1	-
NM_001122752.2(SERPINI1):c.980-7T>G	5274	SERPINI1	Likely benign	-1	RCV002092265;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540767	167540767	167540767	-
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)	5274	SERPINI1	Uncertain significance	-1	RCV002794934;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540776	167540776	NC_000003.11:g.167540776A>C	-
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)	5274	SERPINI1	Uncertain significance	-1	RCV003012279;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540776	167540776	NC_000003.11:g.167540776A>G	-
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp)	5274	SERPINI1	Likely benign	rs372246975	RCV000533625;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540784	167540784	NC_000003.11:g.167540784G>T	ClinGen:CA2694958	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr)	5274	SERPINI1	Uncertain significance	-1	RCV002010495;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540800	167540800	167540800	-
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=)	5274	SERPINI1	Likely benign	-1	RCV002107935;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540802	167540802	167540802	-
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg)	5274	SERPINI1	Pathogenic	rs121909052	RCV000007504;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540807	167540807	3:g.167540807A>G	ClinGen:CA118617,OMIM:602445.0003	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340_Phe341=)	5274	SERPINI1	Likely benign	-1	RCV002616477;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540814	167540814	NC_000003.11:g.167540814C>A	-
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=)	5274	SERPINI1	Likely benign	-1	RCV001505141;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540820	167540820	167540820	-
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp)	5274	SERPINI1	Uncertain significance	rs200482511	RCV001224655;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540827	167540827	3:g.167540827A>G	-
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=)	5274	SERPINI1	Likely benign	-1	RCV002143326;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540829	167540829	167540829	-
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter)	5274	SERPINI1	Uncertain significance	rs1560020073	RCV000697834;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540833	167540833	NC_000003.11:g.167540833G>T	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)	5274	SERPINI1	Uncertain significance	-1	RCV002816048;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540840	167540840	NC_000003.11:g.167540840C>T	-
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354_Ser355=)	5274	SERPINI1	Likely benign	-1	RCV002614046;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540856	167540856	NC_000003.11:g.167540856C>A	-
NM_001122752.2(SERPINI1):c.1066+10G>T	5274	SERPINI1	Likely benign	-1	RCV001464523;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167540870	167540870	167540870	-
NM_001122752.2(SERPINI1):c.1067-20A>G	5274	SERPINI1	Likely benign	-1	RCV002794798;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542241	167542241	NC_000003.11:g.167542241A>G	-
NM_001122752.2(SERPINI1):c.1067-14T>C	5274	SERPINI1	Likely benign	-1	RCV002908223;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542247	167542247	NC_000003.11:g.167542247T>C	-
NM_001122752.2(SERPINI1):c.1067-11C>T	5274	SERPINI1	Likely benign	-1	RCV003034214;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542250	167542250	NC_000003.11:g.167542250C>T	-
NM_001122752.2(SERPINI1):c.1067-6C>T	5274	SERPINI1	Conflicting interpretations of pathogenicity	rs759360650	RCV001146819;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542255	167542255	3:g.167542255C>T	-
NM_001122752.2(SERPINI1):c.1067-4G>A	5274	SERPINI1	Likely benign	-1	RCV001436634;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542257	167542257	167542257	-
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile)	5274	SERPINI1	Uncertain significance	-1	RCV002023614;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542265	167542265	167542265	-
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile)	5274	SERPINI1	Uncertain significance	-1	RCV001887439;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542265	167542265	167542265	-
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)	5274	SERPINI1	Uncertain significance	-1	RCV002303869;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542291	167542291	167542291	-
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=)	5274	SERPINI1	Likely benign	-1	RCV001478243;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542310	167542310	167542310	-
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn)	5274	SERPINI1	Uncertain significance	rs767865960	RCV000689787;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542311	167542311	3:g.167542311G>A	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=)	5274	SERPINI1	Likely benign	-1	RCV001405245;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542319	167542319	167542319	-
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr)	5274	SERPINI1	Uncertain significance	rs1560020646	RCV000713180\|RCV000824175;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542333	167542333	NC_000003.11:g.167542333T>C	-
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381_Asn382=)	5274	SERPINI1	Likely benign	-1	RCV002876417;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167542335	167542335	NC_000003.11:g.167542335A>C	-
NM_001122752.2(SERPINI1):c.1157-4A>G	5274	SERPINI1	Likely benign	-1	RCV001498991;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543031	167543031	167543031	-
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu)	5274	SERPINI1	Uncertain significance	rs1712477543	RCV001223313;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543040	167543040	3:g.167543040A>C	-
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile)	5274	SERPINI1	Uncertain significance	rs1370761997	RCV000793055;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543051	167543051	3:g.167543051G>A	-
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile)	5274	SERPINI1	Uncertain significance	-1	RCV001365009;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543051	167543051	167543051	-
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg)	5274	SERPINI1	Pathogenic	rs121909054	RCV000007506;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543052	167543052	3:g.167543052G>A	ClinGen:CA118621,OMIM:602445.0005	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)	5274	SERPINI1	Pathogenic	-1	RCV002250343;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543052	167543052	167543052	-
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu)	5274	SERPINI1	Pathogenic/Likely pathogenic	rs121909053	RCV000007505\|RCV001813962;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552	3	167543053	167543053	3:g.167543053G>A	ClinGen:CA118619,OMIM:602445.0004	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=)	5274	SERPINI1	Likely benign	rs775874977	RCV000975708\|RCV001461355;	N	MedGen:CN517202\|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543054	167543054	3:g.167543054A>T	-
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392_Arg393=)	5274	SERPINI1	Likely benign	-1	RCV003058905;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543054	167543054	NC_000003.11:g.167543054A>C	-
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)	5274	SERPINI1	Benign/Likely benign	rs144637103	RCV000269095;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543061	167543061	NC_000003.11:g.167543061A>G	ClinGen:CA2695014	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)	5274	SERPINI1	Uncertain significance	-1	RCV002720114;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543061	167543061	NC_000003.11:g.167543061A>C	-
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr)	5274	SERPINI1	Uncertain significance	rs761969364	RCV001346535;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543062	167543062	167543062	-
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr)	5274	SERPINI1	Uncertain significance	rs750646140	RCV000687197;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543064	167543064	NC_000003.11:g.167543064C>T	-	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His)	5274	SERPINI1	Uncertain significance	-1	RCV001923181;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543079	167543079	167543079	-
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser)	5274	SERPINI1	Uncertain significance	-1	RCV001996543;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543080	167543080	167543080	-
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu)	5274	SERPINI1	Uncertain significance	rs149238028	RCV000642682;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543099	167543099	NC_000003.11:g.167543099C>A	ClinGen:CA87839422	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=)	5274	SERPINI1	Likely benign	-1	RCV002119889;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543099	167543099	167543099	-
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys)	5274	SERPINI1	Uncertain significance	rs756112704	RCV001223652;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543100	167543100	3:g.167543100G>A	-
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln)	5274	SERPINI1	Uncertain significance	-1	RCV002008306;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543103	167543103	167543103	-
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?)	5274	SERPINI1	Uncertain significance	-1	RCV001934560;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543106	167543107	167543106	-
NM_001122752.2(SERPINI1):c.*87A>G	5274	SERPINI1	Uncertain significance	rs1712486520	RCV001146820;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543198	167543198	3:g.167543198A>G	-
NM_001122752.2(SERPINI1):c.*172T>A	5274	SERPINI1	Uncertain significance	rs886058170	RCV000326610;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543283	167543283	NC_000003.11:g.167543283T>A	ClinGen:CA10615790	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.*197T>C	5274	SERPINI1	Uncertain significance	rs532826558	RCV000360309;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543308	167543308	NC_000003.11:g.167543308T>C	ClinGen:CA10617701	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_005025.4(SERPINI1):c.*256dupT	5274	SERPINI1	Likely benign	rs547381979	RCV000368652;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110	3	167543367	167543367	3:g.167543366_167543367insT	ClinGen:CA10654659	C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.-19+117A>G	-1	SERPINI1;PDCD10	Likely benign	rs145045884	RCV000271105\|RCV000311644;	N	MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110\|Human Phenotype Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860, Orphanet:164, Orphanet:221061	3	167453728	167453728	3:g.167453728A>G	ClinGen:CA10617688	C2919945 116860 Cerebral cavernous malformation;

MSeqDR Portal

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