MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Amyotrophic Lateral Sclerosis (D000690)
Parent Node: Frontotemporal Dementia (D057180)
..Starting node ..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
..AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
..AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
..Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
..Chromosome 3-Linked Frontotemporal Dementia (C579991)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
..Frontotemporal Dementia With Motor Neuron Disease (C566288)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Pallidopontonigral Degeneration (C563003)
..Pick Disease of the Brain (D020774)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4887

Name:

FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1

Definition:

Alternative IDs:

DO:DOID:0060213

ParentIDs:

MESH:D000690|MESH:D057180

TreeNumbers:

C10.228.140.380.266.299/105550 |C10.228.854.139/105550 |C10.574.562.250/105550 |C10.574.950.050/105550 |C10.574.950.300.299/105550 |C10.668.467.250/105550 |C18.452.845.800.050/105550 |C18.452.845.800.300.299/105550 |F03.615.400.380.299/105550

Synonyms:

Slim Mappings:

Mental disorder|Metabolic disease|Nervous system disease

Reference:

MedGen: 105550
MeSH: 105550
OMIM: 105550;
MSeqDR :
Genes: C9orf72;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002366	Abnormal lower motor neuron morphology
4	HP:0007354	Amyotrophic lateral sclerosis
5	HP:0000741	Apathy
6	HP:0002186	Apraxia
7	HP:0002059	Cerebral atrophy
8	HP:0000746	Delusions
9	HP:0000716	Depressivity NAMDC: Depression
10	HP:0001260	Dysarthria NAMDC: Dysarthria
11	HP:0002442	Dyscalculia
12	HP:0007308	Extrapyramidal dyskinesia
13	HP:0002145	Frontotemporal dementia
14	HP:0002171	Gliosis
15	HP:0000738	Hallucinations
16	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
17	HP:0002529	Neuronal loss in central nervous system
18	HP:0002385	Paraparesis
19	HP:0001300	Parkinsonism NAMDC: Parkinsonism
20	HP:0003678	Rapidly progressive
21	HP:0003202	Skeletal muscle atrophy
22	HP:0000605	Supranuclear gaze palsy	HP:0040283
23	HP:0002273	Tetraparesis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_018325.5(C9orf72):c.*1626G>A	203228	C9orf72	Uncertain significance	rs1820774330	RCV001169225;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27546608	27546608	9:g.27546608C>T	-
NM_018325.5(C9orf72):c.*1548G>A	203228	C9orf72	Uncertain significance	rs549660498	RCV001169226;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27546686	27546686	9:g.27546686C>T	-
NM_018325.5(C9orf72):c.*1469T>A	203228	C9orf72	Benign	rs141012074	RCV000285068;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27546765	27546765	NC_000009.11:g.27546765A>T	ClinGen:CA10633421	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*1406T>C	203228	C9orf72	Benign	rs9103	RCV000337653;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27546828	27546828	NC_000009.11:g.27546828A>G	ClinGen:CA10633422	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*1344C>T	203228	C9orf72	Benign	rs13691	RCV000375925;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27546890	27546890	NC_000009.11:g.27546890G>A	ClinGen:CA10633747	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*1214T>C	203228	C9orf72	Likely benign	rs191690136	RCV001166310;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547020	27547020	9:g.27547020A>G	-
NM_018325.5(C9orf72):c.*1136T>C	203228	C9orf72	Uncertain significance	rs375528640	RCV001166311;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547098	27547098	9:g.27547098A>G	-
NM_018325.5(C9orf72):c.*1064A>G	203228	C9orf72	Uncertain significance	rs184151041	RCV001166312;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547170	27547170	9:g.27547170T>C	-
NM_018325.5(C9orf72):c.*1058G>T	203228	C9orf72	Benign	rs41272887	RCV000335445;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547176	27547176	NC_000009.11:g.27547176C>A	ClinGen:CA10633423	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*1024A>G	203228	C9orf72	Benign	rs563194682	RCV000407085;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547210	27547210	NC_000009.11:g.27547210T>C	ClinGen:CA10633756	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*921C>A	203228	C9orf72	Benign	rs3739526	RCV000314542;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547313	27547313	NC_000009.11:g.27547313G>T	ClinGen:CA10633426	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*914A>G	203228	C9orf72	Benign	rs561651779	RCV000348378;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547320	27547320	NC_000009.11:g.27547320T>C	ClinGen:CA10633758	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*901T>C	203228	C9orf72	Uncertain significance	rs774314112	RCV001166822;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547333	27547333	9:g.27547333A>G	-
NM_018325.5(C9orf72):c.*891A>G	203228	C9orf72	Uncertain significance	rs952713285	RCV001166823;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547343	27547343	9:g.27547343T>C	-
NM_018325.5(C9orf72):c.*837G>A	203228	C9orf72	Benign	rs80172172	RCV000403689;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547397	27547397	NC_000009.11:g.27547397C>T	ClinGen:CA10633428	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*787G>A	203228	C9orf72	Uncertain significance	rs148832592	RCV001166824;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547447	27547447	9:g.27547447C>T	-
NM_018325.5(C9orf72):c.*673T>C	203228	C9orf72	Uncertain significance	rs886063835	RCV000366435;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547561	27547561	NC_000009.11:g.27547561A>G	ClinGen:CA10627188	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*651G>T	203228	C9orf72	Benign	rs548883941	RCV000269459;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547583	27547583	NC_000009.11:g.27547583C>A	ClinGen:CA10627189	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*602A>G	203228	C9orf72	Uncertain significance	rs567258799	RCV001168539;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547632	27547632	9:g.27547632T>C	-
NM_018325.5(C9orf72):c.*577G>C	203228	C9orf72	Uncertain significance	rs886063836	RCV000308264;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547657	27547657	NC_000009.11:g.27547657C>G	ClinGen:CA10633438	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*552A>C	203228	C9orf72	Uncertain significance	rs886063837	RCV000360568;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547682	27547682	NC_000009.11:g.27547682T>G	ClinGen:CA10627190	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*454A>G	203228	C9orf72	Uncertain significance	rs754824201	RCV001168540;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547780	27547780	9:g.27547780T>C	-
NM_018325.5(C9orf72):c.*356T>G	203228	C9orf72	Uncertain significance	rs886063838	RCV000268271;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547878	27547878	9:g.27547878A>C	ClinGen:CA10627191	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*317A>G	203228	C9orf72	Uncertain significance	rs886063839	RCV000320896;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547917	27547917	9:g.27547917T>C	ClinGen:CA10629879	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*250T>C	203228	C9orf72	Uncertain significance	rs886063840	RCV000262225;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547984	27547984	9:g.27547984A>G	ClinGen:CA10633448	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*248T>C	203228	C9orf72	Benign	rs73440933	RCV000319762;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27547986	27547986	9:g.27547986A>G	ClinGen:CA10629881	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*224C>G	203228	C9orf72	Uncertain significance	rs1333786274	RCV001169296;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548010	27548010	9:g.27548010G>C	-
NM_018325.5(C9orf72):c.*174C>T	203228	C9orf72	Benign	rs146530591	RCV000373019;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548060	27548060	9:g.27548060G>A	ClinGen:CA10629882	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*144C>T	203228	C9orf72	Uncertain significance	rs1820806932	RCV001169297;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548090	27548090	9:g.27548090G>A	-
NM_018325.5(C9orf72):c.*122G>A	203228	C9orf72	Uncertain significance	rs549202876	RCV000294869;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548112	27548112	9:g.27548112C>T	ClinGen:CA10633449	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*73G>A	203228	C9orf72	Uncertain significance	rs886063841	RCV000333432;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548161	27548161	NC_000009.11:g.27548161C>T	ClinGen:CA10633761	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.*32A>C	203228	C9orf72	Uncertain significance	rs759595881	RCV001169298;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548202	27548202	9:g.27548202T>G	-
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His)	203228	C9orf72	Uncertain significance	rs767272170	RCV000385579;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548254	27548254	NC_000009.11:g.27548254C>G	ClinGen:CA5017620	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln)	203228	C9orf72	Uncertain significance	rs750045383	RCV000293854;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548256	27548256	NC_000009.11:g.27548256C>T	ClinGen:CA5017622	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)	203228	C9orf72	Benign	rs141063383	RCV000346439\|RCV000951280;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	9	27548276	27548276	NC_000009.11:g.27548276G>A	ClinGen:CA5017626	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro)	203228	C9orf72	Uncertain significance	rs200703028	RCV001166359;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548395	27548395	9:g.27548395A>G	-
NM_018325.5(C9orf72):c.1259+8A>C	203228	C9orf72	Likely benign	rs182259442	RCV001166360;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548547	27548547	9:g.27548547T>G	-
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr)	203228	C9orf72	Uncertain significance	rs760887239	RCV000290416;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548576	27548576	NC_000009.11:g.27548576A>G	ClinGen:CA5017711	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe)	203228	C9orf72	Uncertain significance	rs541965231	RCV001166361;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27548604	27548604	9:g.27548604C>A	-
NM_018325.5(C9orf72):c.1149+9T>C	203228	C9orf72	Benign	rs139352974	RCV000329061\|RCV000882010;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	9	27550639	27550639	NC_000009.11:g.27550639A>G	ClinGen:CA5017737	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.1055C>G (p.Thr352Arg)	203228	C9orf72	Uncertain significance	-1	RCV003143872;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27556595	27556595	NC_000009.11:g.27556595G>C	-
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr)	203228	C9orf72	Uncertain significance	rs1307772456	RCV001166362;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27556599	27556599	9:g.27556599C>A	-
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=)	203228	C9orf72	Uncertain significance	rs780494226	RCV001166363;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27556648	27556648	9:g.27556648G>A	-
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu)	203228	C9orf72	Uncertain significance	rs146043466	RCV001166885;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27556656	27556656	9:g.27556656T>A	-
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys)	203228	C9orf72	Uncertain significance	rs773251849	RCV001166886;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27556665	27556665	9:g.27556665G>A	-
NM_018325.5(C9orf72):c.870C>T (p.Ser290=)	203228	C9orf72	Benign	rs10122902	RCV000600740\|RCV001579631;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN169374	9	27556780	27556780	NC_000009.11:g.27556780G>A	ClinGen:CA5017812	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_018325.5(C9orf72):c.771A>G (p.Pro257=)	203228	C9orf72	Uncertain significance	rs1169081203	RCV001166887;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27558573	27558573	9:g.27558573T>C	-
NM_018325.5(C9orf72):c.765G>A (p.Leu255=)	203228	C9orf72	Uncertain significance	rs758724401	RCV001166888;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27558579	27558579	9:g.27558579C>T	-
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile)	203228	C9orf72	Likely benign	rs781214485	RCV001166889;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27560260	27560260	9:g.27560260C>T	-
NM_018325.5(C9orf72):c.682T>C (p.Leu228=)	203228	C9orf72	Benign	rs147034723	RCV001166890;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27560281	27560281	9:g.27560281A>G	-
NM_018325.5(C9orf72):c.665+115_665+117dup	203228	C9orf72	Benign	-1	RCV001554635;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27561465	27561466	27561465	-
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser)	203228	C9orf72	Benign	rs17769294	RCV000606644\|RCV001579916;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN169374	9	27561628	27561628	NC_000009.11:g.27561628T>C	ClinGen:CA5017889,UniProtKB:Q96LT7#VAR_050827	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_018325.5(C9orf72):c.600+27A>G	203228	C9orf72	Benign	-1	RCV001554636;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27562352	27562352	27562352	-
NM_018325.5(C9orf72):c.573A>G (p.Lys191=)	203228	C9orf72	Uncertain significance	rs775042273	RCV001168600;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27562406	27562406	9:g.27562406T>C	-
NM_018325.5(C9orf72):c.528T>C (p.Leu176=)	203228	C9orf72	Benign	rs34608611	RCV001168601;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27562451	27562451	9:g.27562451A>G	-
NM_018325.5(C9orf72):c.477A>G (p.Leu159=)	203228	C9orf72	Likely benign	rs374411112	RCV001168602;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27565556	27565556	9:g.27565556T>C	-
NM_018325.5(C9orf72):c.462C>T (p.Val154=)	203228	C9orf72	Benign	rs188263738	RCV000392255;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27565571	27565571	NC_000009.11:g.27565571G>A	ClinGen:CA5017970	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys)	203228	C9orf72	Uncertain significance	rs1375695528	RCV001168603;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27566790	27566790	9:g.27566790T>C	-
NM_018325.5(C9orf72):c.288A>G (p.Ser96=)	203228	C9orf72	Benign	rs147752518	RCV000283631\|RCV001579531;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	9	27566831	27566831	NC_000009.11:g.27566831T>C	ClinGen:CA5018006	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln)	203228	C9orf72	Uncertain significance	rs1819480368	RCV001168604;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27566901	27566901	9:g.27566901C>T	-
NM_018325.5(C9orf72):c.-8A>G	203228	C9orf72	Uncertain significance	rs548524458	RCV001168605;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27567126	27567126	9:g.27567126T>C	-
NM_018325.5(C9orf72):c.-27G>A	203228	C9orf72	Benign	rs10757668	RCV000341175;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27567145	27567145	NC_000009.11:g.27567145C>T	ClinGen:CA5018054	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]	203228	C9orf72	Pathogenic	-1	RCV000024147;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573527	27573532		OMIM:614260.0001	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)	203228	C9orf72	Benign	-1	RCV000192064;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573527	27573532		-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NG_031977.1:g.(5321_5338)ins(360_?)	203228	C9orf72	Pathogenic	rs143561967	RCV000192065;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573527	27573532		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_001256054.3(C9orf72):c.-47G>A	203228	C9orf72	Uncertain significance	rs886063846	RCV000392279;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573709	27573709	NC_000009.11:g.27573709C>T	ClinGen:CA10629887	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_001256054.3(C9orf72):c.-113C>G	203228	C9orf72	Uncertain significance	rs750403732	RCV000301517;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573775	27573775	NC_000009.11:g.27573775G>C	ClinGen:CA10633484	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_001256054.3(C9orf72):c.-115A>C	203228	C9orf72	Uncertain significance	rs183102304	RCV000335380;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573777	27573777	NC_000009.11:g.27573777T>G	ClinGen:CA10633488	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_001256054.3(C9orf72):c.-152A>G	203228	C9orf72	Uncertain significance	rs756998583	RCV001169364;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573814	27573814	9:g.27573814T>C	-
NM_001256054.3(C9orf72):c.-157G>A	203228	C9orf72	Uncertain significance	rs1819655845	RCV001169365;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573819	27573819	9:g.27573819C>T	-
NM_001256054.3(C9orf72):c.-164T>C	203228	C9orf72	Benign	rs41272893	RCV000405187;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573826	27573826	NC_000009.11:g.27573826A>G	ClinGen:CA10633776	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NM_001256054.3(C9orf72):c.-173A>G	203228	C9orf72	Uncertain significance	rs886063848	RCV000366820;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	9	27573835	27573835	NC_000009.11:g.27573835T>C	ClinGen:CA10629888	CN239211 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia;
NC_000005.9:g.(?_178413111)_(179263593_?)dup	8878	SQSTM1	Uncertain significance	-1	RCV003107771;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	178413111	179263593		-
NC_000005.9:g.(?_178770758)_(179263603_?)dup	8878	SQSTM1	Uncertain significance	-1	RCV001323035;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	178770758	179263603	-1	-
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs1302810798	RCV001319264\|RCV001563679\|RCV002473267;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145\|MedGen:CN517202	5	179247937	179247937	179247937	-
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)	8878	SQSTM1	Uncertain significance	-1	RCV001977165;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247939	179247939	179247939	-
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)	8878	SQSTM1	Uncertain significance	-1	RCV003021792;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247939	179247939	NC_000005.9:g.179247939G>C	-
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)	8878	SQSTM1	Uncertain significance	rs377371202	RCV001067568\|RCV002554527\|RCV003142020;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	179247941	179247941	5:g.179247941C>T	-
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)	8878	SQSTM1	Likely benign	-1	RCV001445055;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247951	179247951	179247951	-
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)	8878	SQSTM1	Uncertain significance	rs778461636	RCV001318936;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247952	179247952	179247952	-
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)	8878	SQSTM1	Uncertain significance	-1	RCV002595489;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247961	179247961	NC_000005.9:g.179247961T>C	-
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)	8878	SQSTM1	Uncertain significance	-1	RCV001915938;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247962	179247962	179247962	-
NM_003900.5(SQSTM1):c.31C>T (p.Leu11_Gly12=)	8878	SQSTM1	Likely benign	-1	RCV002584964;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247967	179247967	NC_000005.9:g.179247967C>T	-
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)	8878	SQSTM1	Likely benign	rs1476097073	RCV000983258;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247969	179247969	5:g.179247969G>C	-
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002927388;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247970	179247970	NC_000005.9:g.179247970G>C	-
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)	8878	SQSTM1	Uncertain significance	rs866832054	RCV001224713;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247971	179247971	5:g.179247971G>T	-
NM_003900.5(SQSTM1):c.36C>T (p.Gly12_Lys13=)	8878	SQSTM1	Uncertain significance	-1	RCV003052267;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247972	179247972	NC_000005.9:g.179247972C>T	-
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)	8878	SQSTM1	Likely benign	-1	RCV002198370;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247975	179247975	179247975	-
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)	8878	SQSTM1	Uncertain significance	rs773552098	RCV000480150\|RCV000529745\|RCV002526671;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MeSH:D030342,MedGen:C0950123	5	179247982	179247982	5:g.179247982G>A	ClinGen:CA16618192	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)	8878	SQSTM1	Uncertain significance	rs141502868	RCV001155397\|RCV001238678\|RCV001267032;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179247986	179247986	5:g.179247986C>T	-
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)	8878	SQSTM1	Uncertain significance	rs902195752	RCV001053835;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179247989	179247989	5:g.179247989G>A	-
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)	8878	SQSTM1	Likely benign	rs1582002994	RCV000920409\|RCV001447031;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179247993	179247993	5:g.179247993G>A	-
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)	8878	SQSTM1	Likely benign	-1	RCV002097242;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248005	179248005	179248005	-
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)	8878	SQSTM1	Likely benign	-1	RCV002077926;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248008	179248008	179248008	-
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)	8878	SQSTM1	Uncertain significance	-1	RCV001358010\|RCV003120579;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248009	179248009	179248009	-
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)	8878	SQSTM1	Likely benign	-1	RCV002147968;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248014	179248014	179248014	-
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)	8878	SQSTM1	Uncertain significance	rs759823891	RCV000380173\|RCV001850866;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248020	179248020	NC_000005.9:g.179248020C>A	ClinGen:CA3600369	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.84C>T (p.Ser28_Pro29=)	8878	SQSTM1	Likely benign	-1	RCV003077608;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248020	179248020	NC_000005.9:g.179248020C>T	-
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)	8878	SQSTM1	Uncertain significance	rs752506754	RCV001237319;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248021	179248021	5:g.179248021C>T	-
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)	8878	SQSTM1	Uncertain significance	rs1012113887	RCV000535902;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248022	179248022	5:g.179248022C>G	ClinGen:CA133094938	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)	8878	SQSTM1	Likely benign	-1	RCV001471268;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248023	179248023	179248023	-
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)	8878	SQSTM1	Uncertain significance	-1	RCV001916488;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248024	179248024	179248024	-
NM_003900.5(SQSTM1):c.96G>A (p.Glu32_Ala33=)	8878	SQSTM1	Likely benign	-1	RCV002746644;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248032	179248032	NC_000005.9:g.179248032G>A	-
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)	8878	SQSTM1	Uncertain significance	-1	RCV001355245\|RCV003120578;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248033	179248033	179248033	-
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs200396166	RCV000184066\|RCV000652548\|RCV001155398\|RCV001636735\|RCV002518539;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|	5	179248034	179248034	NC_000005.9:g.179248034C>T	ClinGen:CA3600374,OMIM:601530.0006	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)	8878	SQSTM1	Uncertain significance	-1	RCV003007351;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248034	179248034	NC_000005.9:g.179248034C>G	-
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002302974;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248040	179248040	179248040	-
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)	8878	SQSTM1	Likely benign	rs376158712	RCV000693170;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248042	179248042	5:g.179248042G>A	-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)	8878	SQSTM1	Uncertain significance	-1	RCV003023667;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248045	179248051	NC_000005.9:g.179248045_179248051delinsC	-
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)	8878	SQSTM1	Uncertain significance	rs1298281008	RCV001345785;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248049	179248049	179248049	-
NM_003900.5(SQSTM1):c.114G>T (p.Ala38_Ala39=)	8878	SQSTM1	Likely benign	-1	RCV002867939;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248050	179248050	NC_000005.9:g.179248050G>T	-
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)	8878	SQSTM1	Likely benign	-1	RCV002152616;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248053	179248053	179248053	-
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)	8878	SQSTM1	Uncertain significance	rs1377640860	RCV001232874;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248057	179248057	5:g.179248057C>T	-
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)	8878	SQSTM1	Uncertain significance	rs745356508	RCV000652539;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248058	179248058	NC_000005.9:g.179248058C>T	ClinGen:CA3600376	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)	8878	SQSTM1	Uncertain significance	rs779786150	RCV000822942\|RCV001580098;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179248075	179248075	5:g.179248075C>G	-
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=)	8878	SQSTM1	Likely benign	-1	RCV001947007;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248083	179248083	179248083	-
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)	8878	SQSTM1	Uncertain significance	rs748555662	RCV000800544;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248090	179248090	5:g.179248090G>T	-
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)	8878	SQSTM1	Uncertain significance	-1	RCV001770763\|RCV001861100;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248094	179248094	179248094	-
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=)	8878	SQSTM1	Likely benign	-1	RCV001419003;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248096	179248096	179248096	-
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=)	8878	SQSTM1	Likely benign	-1	RCV002126754;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248101	179248101	179248101	-
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)	8878	SQSTM1	Likely benign	-1	RCV001413115;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248107	179248107	179248107	-
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)	8878	SQSTM1	Uncertain significance	-1	RCV002016796;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248107	179248109	179248106	-
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser)	8878	SQSTM1	Uncertain significance	-1	RCV001881907;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248114	179248114	179248114	-
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)	8878	SQSTM1	Benign/Likely benign	rs767340839	RCV000372389\|RCV000552844\|RCV001530992;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179248119	179248119	NC_000005.9:g.179248119C>T	ClinGen:CA3600383	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=)	8878	SQSTM1	Likely benign	-1	RCV001397667;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248119	179248119	179248119	-
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)	8878	SQSTM1	Benign/Likely benign	rs774355338	RCV000713545\|RCV001422461;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248121	179248121	NC_000005.9:g.179248121G>T	-
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=)	8878	SQSTM1	Likely benign	rs1278023995	RCV000939896\|RCV001435485;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248125	179248125	5:g.179248125C>T	-
NM_003900.5(SQSTM1):c.192G>A (p.Gln64_Ala65=)	8878	SQSTM1	Likely benign	-1	RCV002731489;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248128	179248128	NC_000005.9:g.179248128G>A	-
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=)	8878	SQSTM1	Likely benign	rs986341874	RCV000918032\|RCV002065914;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248131	179248131	5:g.179248131G>A	-
NM_003900.5(SQSTM1):c.195G>T (p.Ala65_His66=)	8878	SQSTM1	Likely benign	-1	RCV002658101;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248131	179248131	NC_000005.9:g.179248131G>T	-
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=)	8878	SQSTM1	Uncertain significance	rs1449269769	RCV000516617\|RCV000699830;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248140	179248140	5:g.179248140C>G	ClinGen:CA448058018	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.205+2T>C	8878	SQSTM1	Likely pathogenic	-1	RCV002780902;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248143	179248143	NC_000005.9:g.179248143T>C	-
NM_003900.5(SQSTM1):c.205+6C>T	8878	SQSTM1	Uncertain significance	-1	RCV001929062;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248147	179248147	179248147	-
NM_003900.5(SQSTM1):c.205+7G>C	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs912066047	RCV000951194\|RCV003141903;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179248148	179248148	5:g.179248148G>C	-
NM_003900.5(SQSTM1):c.205+7G>A	8878	SQSTM1	Likely benign	rs912066047	RCV001045498;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248148	179248148	5:g.179248148G>A	-
NM_003900.5(SQSTM1):c.205+11C>G	8878	SQSTM1	Likely benign	-1	RCV003081881;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179248152	179248152	NC_000005.9:g.179248152C>G	-
NM_003900.5(SQSTM1):c.205+12G>C	8878	SQSTM1	Likely benign	-1	RCV002102885;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248153	179248153	179248153	-
NM_003900.5(SQSTM1):c.205+12G>T	8878	SQSTM1	Likely benign	-1	RCV002116403;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248153	179248153	179248153	-
NM_003900.5(SQSTM1):c.205+14G>C	8878	SQSTM1	Likely benign	-1	RCV002894833;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248155	179248155	NC_000005.9:g.179248155G>C	-
NM_003900.5(SQSTM1):c.205+18C>G	8878	SQSTM1	Likely benign	-1	RCV002129934;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179248159	179248159	179248159	-
NM_003900.5(SQSTM1):c.206-11A>G	8878	SQSTM1	Likely benign	-1	RCV002899576;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249947	179249947	NC_000005.9:g.179249947A>G	-
NM_003900.5(SQSTM1):c.206-9A>G	8878	SQSTM1	Uncertain significance	-1	RCV001888488;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249949	179249949	179249949	-
NM_003900.5(SQSTM1):c.206-7_206-4del	8878	SQSTM1	Likely benign	rs779766449	RCV000953849\|RCV001490517;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249950	179249953	5:g.179249950_179249953del	-
NM_003900.5(SQSTM1):c.206-8C>T	8878	SQSTM1	Likely benign	-1	RCV002894915;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249950	179249950	NC_000005.9:g.179249950C>T	-
NM_003900.5(SQSTM1):c.206-4C>G	8878	SQSTM1	Likely benign	rs370778198	RCV000951523\|RCV001489628;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249954	179249954	5:g.179249954C>G	-
NM_003900.5(SQSTM1):c.206-4C>T	8878	SQSTM1	Likely benign	-1	RCV002186697;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249954	179249954	179249954	-
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp)	8878	SQSTM1	Uncertain significance	-1	RCV001929599;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249962	179249962	179249962	-
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)	8878	SQSTM1	Uncertain significance	-1	RCV003049587;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249963	179249963	NC_000005.9:g.179249963G>A	-
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=)	8878	SQSTM1	Likely benign	-1	RCV001442619;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249965	179249965	179249965	-
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)	8878	SQSTM1	Uncertain significance	rs376802604	RCV001232039;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249966	179249966	5:g.179249966G>A	-
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=)	8878	SQSTM1	Likely benign	-1	RCV002097870;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249968	179249968	179249968	-
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)	8878	SQSTM1	Benign	-1	RCV001512364;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249974	179249974	179249974	-
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)	8878	SQSTM1	Uncertain significance	rs1757838607	RCV001338014;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249976	179249976	179249976	-
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=)	8878	SQSTM1	Likely benign	rs746426826	RCV000936224\|RCV001417532;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249986	179249986	5:g.179249986C>T	-
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=)	8878	SQSTM1	Likely benign	-1	RCV002149429;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249992	179249992	179249992	-
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)	8878	SQSTM1	Uncertain significance	rs368853286	RCV001040479;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179249993	179249993	5:g.179249993G>A	-
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)	8878	SQSTM1	Pathogenic	-1	RCV001390972;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179249996	179249996	179249996	-
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)	8878	SQSTM1	Uncertain significance	rs539682696	RCV001223992;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250003	179250003	5:g.179250003C>T	-
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=)	8878	SQSTM1	Likely benign	-1	RCV001452910;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250004	179250004	179250004	-
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro)	8878	SQSTM1	Uncertain significance	-1	RCV002036782;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250008	179250008	179250008	-
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)	8878	SQSTM1	Uncertain significance	-1	RCV002667795;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250009	179250009	NC_000005.9:g.179250009C>A	-
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)	8878	SQSTM1	Pathogenic	-1	RCV002685776;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250011	179250012	NC_000005.9:g.179250011_179250012insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT	-
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile)	8878	SQSTM1	Uncertain significance	-1	RCV001366988;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250013	179250013	179250013	-
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)	8878	SQSTM1	Uncertain significance	rs763040103	RCV000791963;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250015	179250015	5:g.179250015C>T	-
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His)	8878	SQSTM1	Uncertain significance	-1	RCV001884519;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250017	179250017	179250017	-
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=)	8878	SQSTM1	Likely benign	rs150883783	RCV000946416;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250019	179250019	5:g.179250019C>T	-
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)	8878	SQSTM1	Uncertain significance	rs181263868	RCV000531110\|RCV002464257\|RCV002526714;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	179250020	179250020	NC_000005.9:g.179250020G>A	ClinGen:CA3600434	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)	8878	SQSTM1	Uncertain significance	-1	RCV001953232;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250026	179250026	179250026	-
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly)	8878	SQSTM1	Uncertain significance	rs752438818	RCV001070750;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250027	179250027	5:g.179250027A>G	-
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val)	8878	SQSTM1	Uncertain significance	-1	RCV001904158;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250032	179250032	179250032	-
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	8878	SQSTM1	Pathogenic	rs886039782	RCV000256198\|RCV001062487;	N	MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250038	179250038	NC_000005.9:g.179250038C>T	ClinGen:CA10588825,OMIM:601530.0010	C4310693 617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)	8878	SQSTM1	Uncertain significance	rs750784335	RCV001339938;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250045	179250045	179250045	-
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs537142935	RCV000878251\|RCV003141887;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179250047	179250047	5:g.179250047A>C	-
NM_003900.5(SQSTM1):c.301+1G>T	8878	SQSTM1	Pathogenic	-1	RCV001908192;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250054	179250054	179250054	-
NM_003900.5(SQSTM1):c.301+13_301+24del	8878	SQSTM1	Likely benign	rs1582006453	RCV000925499\|RCV001501413;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250058	179250069	5:g.179250058_179250069del	-
NM_003900.5(SQSTM1):c.301+12C>G	8878	SQSTM1	Benign/Likely benign	rs141530539	RCV001157081\|RCV002070932;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250065	179250065	5:g.179250065C>G	-
NM_003900.5(SQSTM1):c.301+12C>T	8878	SQSTM1	Likely benign	-1	RCV002215604;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250065	179250065	179250065	-
NM_003900.5(SQSTM1):c.301+20G>A	8878	SQSTM1	Likely benign	-1	RCV003028918;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250073	179250073	NC_000005.9:g.179250073G>A	-
NM_003900.5(SQSTM1):c.302-13A>G	8878	SQSTM1	Likely benign	-1	RCV003050884;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250845	179250845	NC_000005.9:g.179250845A>G	-
NM_003900.5(SQSTM1):c.302-10C>A	8878	SQSTM1	Likely benign	-1	RCV003043136;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250848	179250848	NC_000005.9:g.179250848C>A	-
NM_003900.5(SQSTM1):c.302-5T>C	8878	SQSTM1	Likely benign	-1	RCV002103066;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250853	179250853	179250853	-
NM_003900.5(SQSTM1):c.302-4G>A	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs1757883398	RCV001288015\|RCV002069539;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250854	179250854	179250854	-
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001366472\|RCV002290695;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	5	179250864	179250864	179250864	-
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)	8878	SQSTM1	Uncertain significance	-1	RCV001363303;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250864	179250866	179250863	-
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=)	8878	SQSTM1	Likely benign	-1	RCV002183866;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250871	179250871	179250871	-
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)	8878	SQSTM1	Uncertain significance	rs886060503	RCV000337545\|RCV002520365;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250872	179250872	NC_000005.9:g.179250872C>T	ClinGen:CA10621561	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)	8878	SQSTM1	Uncertain significance	rs778554903	RCV000541281;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250873	179250873	NC_000005.9:g.179250873G>A	ClinGen:CA3600467	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)	8878	SQSTM1	Uncertain significance	-1	RCV002004728;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250875	179250875	179250875	-
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=)	8878	SQSTM1	Likely benign	-1	RCV001414395;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250877	179250877	179250877	-
NM_003900.5(SQSTM1):c.327C>T (p.His109=)	8878	SQSTM1	Likely benign	-1	RCV002099180;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250883	179250883	179250883	-
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs139372286	RCV000877000\|RCV001655632;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179250884	179250884	5:g.179250884C>T	-
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)	8878	SQSTM1	Uncertain significance	rs371719657	RCV000555994\|RCV001755903;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179250888	179250888	5:g.179250888C>T	ClinGen:CA3600473	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.333A>C (p.Pro111_Pro112=)	8878	SQSTM1	Likely benign	-1	RCV003071377;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250889	179250889	NC_000005.9:g.179250889A>C	-
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu)	8878	SQSTM1	Uncertain significance	rs761423892	RCV001298094;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250891	179250891	179250891	-
NM_003900.5(SQSTM1):c.339T>C (p.Cys113_Ala114=)	8878	SQSTM1	Likely benign	-1	RCV002926952;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250895	179250895	NC_000005.9:g.179250895T>C	-
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002037239;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250903	179250903	179250903	-
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)	8878	SQSTM1	Benign/Likely benign	rs147810437	RCV000254519\|RCV000873998\|RCV001157082\|RCV001579939;	N	MedGen:CN169374\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179250906	179250906	NC_000005.9:g.179250906C>T	ClinGen:CA346905	CN169374 not specified;
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)	8878	SQSTM1	Likely benign	-1	RCV001483314;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250907	179250907	179250907	-
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)	8878	SQSTM1	Uncertain significance	rs200152247	RCV000687286\|RCV001824864\|RCV002544774;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	179250908	179250908	NC_000005.9:g.179250908C>T	-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys)	8878	SQSTM1	Uncertain significance	-1	RCV001998526;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250911	179250911	179250911	-
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)	8878	SQSTM1	Uncertain significance	-1	RCV002913155;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250912	179250912	NC_000005.9:g.179250912G>A	-
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile)	8878	SQSTM1	Uncertain significance	-1	RCV001945096;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250915	179250915	179250915	-
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val)	8878	SQSTM1	Uncertain significance	-1	RCV002010725;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250917	179250917	179250917	-
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)	8878	SQSTM1	Uncertain significance	-1	RCV002823809;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250919	179250919	NC_000005.9:g.179250919G>A	-
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV002710826;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250923	179250923	NC_000005.9:g.179250923C>T	-
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs11548640	RCV000652545\|RCV001157083;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179250928	179250928	NC_000005.9:g.179250928C>T	ClinGen:CA3600490	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)	8878	SQSTM1	Uncertain significance	rs769325755	RCV001041398\|RCV001546334;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179250930	179250930	5:g.179250930A>G	-
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=)	8878	SQSTM1	Likely benign	-1	RCV002101005;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250931	179250931	179250931	-
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)	8878	SQSTM1	Benign	rs774780830	RCV000960397;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250934	179250934	5:g.179250934G>A	-
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)	8878	SQSTM1	Uncertain significance	rs1582007866	RCV000794272;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250937	179250937	5:g.179250937C>G	-
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)	8878	SQSTM1	Likely benign	-1	RCV001473303;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250940	179250940	179250940	-
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)	8878	SQSTM1	Uncertain significance	rs753212399	RCV001304301;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250941	179250941	179250941	-
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV001986709;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250941	179250941	179250941	-
NM_003900.5(SQSTM1):c.387T>C (p.Asp129_Gly130=)	8878	SQSTM1	Likely benign	-1	RCV002602959;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250943	179250943	NC_000005.9:g.179250943T>C	-
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)	8878	SQSTM1	Uncertain significance	-1	RCV003035772;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250945	179250945	NC_000005.9:g.179250945G>T	-
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)	8878	SQSTM1	Uncertain significance	-1	RCV003004963;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250951	179250951	NC_000005.9:g.179250951A>G	-
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)	8878	SQSTM1	Likely benign	rs768110162	RCV000945551\|RCV001425152;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250955	179250955	5:g.179250955G>C	-
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)	8878	SQSTM1	Uncertain significance	rs372480231	RCV000792476;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250957	179250957	5:g.179250957C>T	-
NM_003900.5(SQSTM1):c.402T>C (p.Pro134_Val135=)	8878	SQSTM1	Likely benign	-1	RCV003002408;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250958	179250958	NC_000005.9:g.179250958T>C	-
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=)	8878	SQSTM1	Likely benign	-1	RCV001405738;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250967	179250967	179250967	-
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)	8878	SQSTM1	Pathogenic	-1	RCV001785025\|RCV002541165;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250969	179250969	179250968	-
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys)	8878	SQSTM1	Uncertain significance	-1	RCV001999210;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250971	179250971	179250971	-
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)	8878	SQSTM1	Uncertain significance	rs758090054	RCV000798165\|RCV001662824;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179250972	179250972	5:g.179250972G>A	-
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)	8878	SQSTM1	Likely benign	rs374417389	RCV000976866\|RCV001474261;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250985	179250985	5:g.179250985C>T	-
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)	8878	SQSTM1	Uncertain significance	rs374417389	RCV001157084\|RCV001319479;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250985	179250985	5:g.179250985C>A	-
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)	8878	SQSTM1	Benign/Likely benign	-1	RCV001663459\|RCV002032649;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250986	179250986	179250986	-
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp)	8878	SQSTM1	Uncertain significance	rs1442832120	RCV001061614;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179250987	179250987	5:g.179250987T>A	-
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)	8878	SQSTM1	Uncertain significance	-1	RCV003033133;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179250992	179250992	NC_000005.9:g.179250992C>T	-
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)	8878	SQSTM1	Likely benign	-1	RCV001448733;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251000	179251000	179251000	-
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)	8878	SQSTM1	Uncertain significance	-1	RCV003083761;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251001	179251001	NC_000005.9:g.179251001G>A	-
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)	8878	SQSTM1	Uncertain significance	-1	RCV003090091;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251007	179251007	NC_000005.9:g.179251007T>G	-
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=)	8878	SQSTM1	Likely benign	rs145037913	RCV000652547\|RCV001437175;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251012	179251012	5:g.179251012C>T	ClinGen:CA3600511	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)	8878	SQSTM1	Uncertain significance	rs145056421	RCV000692971\|RCV001157085\|RCV002245594;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179251013	179251013	5:g.179251013G>A	-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)	8878	SQSTM1	Uncertain significance	-1	RCV002928048;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251017	179251017	NC_000005.9:g.179251017G>T	-
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)	8878	SQSTM1	Uncertain significance	rs775988188	RCV001151636\|RCV001343979;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251018	179251018	5:g.179251018C>T	-
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)	8878	SQSTM1	Uncertain significance	-1	RCV003037136;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251019	179251019	NC_000005.9:g.179251019G>A	-
NM_003900.5(SQSTM1):c.465G>A (p.Glu155_Gly156=)	8878	SQSTM1	Likely benign	-1	RCV002606896;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251021	179251021	NC_000005.9:g.179251021G>A	-
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)	8878	SQSTM1	Uncertain significance	-1	RCV002909194;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251029	179251029	NC_000005.9:g.179251029G>A	-
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=)	8878	SQSTM1	Uncertain significance	-1	RCV002000641;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251030	179251030	179251030	-
NM_003900.5(SQSTM1):c.480C>T (p.His160_Arg161=)	8878	SQSTM1	Likely benign	-1	RCV003117082;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251036	179251036	NC_000005.9:g.179251036C>T	-
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)	8878	SQSTM1	Uncertain significance	rs758625124	RCV000818724;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251037	179251037	5:g.179251037C>T	-
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln)	8878	SQSTM1	Uncertain significance	-1	RCV002003091;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251038	179251038	179251038	-
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=)	8878	SQSTM1	Likely benign	-1	RCV002112009;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251042	179251042	179251042	-
NM_003900.5(SQSTM1):c.489C>T (p.His163_Thr164=)	8878	SQSTM1	Likely benign	-1	RCV002591146;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251045	179251045	NC_000005.9:g.179251045C>T	-
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=)	8878	SQSTM1	Likely benign	rs372518286	RCV000958046\|RCV001441697;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251054	179251054	5:g.179251054C>T	-
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002040453;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251064	179251064	179251064	-
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs199931327	RCV000876784\|RCV001151637;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179251069	179251069	5:g.179251069C>G	-
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV002985249;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251071	179251071	NC_000005.9:g.179251071T>A	-
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=)	8878	SQSTM1	Likely benign	-1	RCV002078718;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251072	179251072	179251072	-
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001898169;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251073	179251073	179251073	-
NM_003900.5(SQSTM1):c.522C>T (p.His174_Leu175=)	8878	SQSTM1	Likely benign	-1	RCV003074696;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251078	179251078	NC_000005.9:g.179251078C>T	-
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)	8878	SQSTM1	Pathogenic	rs1331685476	RCV000598741\|RCV001056951;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251079	179251082	NC_000005.9:g.179251082_179251085del	ClinGen:CA565353368	CN517202 not provided;
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)	8878	SQSTM1	Uncertain significance	-1	RCV001952271;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251083	179251083	179251083	-
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)	8878	SQSTM1	Uncertain significance	-1	RCV002624784;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251085	179251085	NC_000005.9:g.179251085G>C	-
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala)	8878	SQSTM1	Uncertain significance	rs1392938040	RCV000652538;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251086	179251086	5:g.179251086A>C	ClinGen:CA362445164	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.531+7A>G	8878	SQSTM1	Likely benign	-1	RCV002133960;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251094	179251094	179251094	-
NM_003900.5(SQSTM1):c.531+15dup	8878	SQSTM1	Likely benign	-1	RCV002128044;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251101	179251102	179251101	-
NM_003900.5(SQSTM1):c.531+14C>G	8878	SQSTM1	Likely benign	-1	RCV003087704;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251101	179251101	NC_000005.9:g.179251101C>G	-
NM_003900.5(SQSTM1):c.531+15T>C	8878	SQSTM1	Likely benign	-1	RCV002072489;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251102	179251102	179251102	-
NM_003900.5(SQSTM1):c.532-19C>T	8878	SQSTM1	Likely benign	-1	RCV002139020;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251163	179251163	179251163	-
NM_003900.5(SQSTM1):c.532-14A>G	8878	SQSTM1	Likely benign	-1	RCV002101697;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251168	179251168	179251168	-
NM_003900.5(SQSTM1):c.532-7C>A	8878	SQSTM1	Likely benign	rs770329828	RCV000805753;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251175	179251175	5:g.179251175C>A	-
NM_003900.5(SQSTM1):c.532-7C>T	8878	SQSTM1	Likely benign	rs770329828	RCV002544613;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251175	179251175	5:g.179251175C>T	-
NM_003900.5(SQSTM1):c.532-6C>T	8878	SQSTM1	Likely benign	-1	RCV002189703;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251176	179251176	179251176	-
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)	8878	SQSTM1	Uncertain significance	-1	RCV002847571;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251189	179251189	NC_000005.9:g.179251189C>T	-
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=)	8878	SQSTM1	Likely benign	rs370203737	RCV002544451;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251190	179251190	5:g.179251190G>A	-
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)	8878	SQSTM1	Likely benign	-1	RCV002217247;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251196	179251196	179251196	-
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs567433223	RCV000877928\|RCV001724184;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179251197	179251197	5:g.179251197C>T	-
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)	8878	SQSTM1	Likely benign	-1	RCV001482351;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251198	179251198	179251198	-
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)	8878	SQSTM1	Uncertain significance	-1	RCV003058969;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251206	179251206	NC_000005.9:g.179251206C>T	-
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)	8878	SQSTM1	Uncertain significance	-1	RCV001980113;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251207	179251207	179251207	-
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn)	8878	SQSTM1	Uncertain significance	-1	RCV001926769;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251211	179251211	179251211	-
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)	8878	SQSTM1	Uncertain significance	-1	RCV002009304\|RCV002473349;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179251212	179251212	179251212	-
NM_003900.5(SQSTM1):c.570C>T (p.His190=)	8878	SQSTM1	Likely benign	-1	RCV001934469;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251220	179251220	179251220	-
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)	8878	SQSTM1	Uncertain significance	rs781478225	RCV000791989\|RCV001095490;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	5	179251221	179251221	5:g.179251221G>A	-
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002027969;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251225	179251225	179251225	-
NM_003900.5(SQSTM1):c.579C>T (p.Phe193_Gly194=)	8878	SQSTM1	Likely benign	-1	RCV002650994;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251229	179251229	NC_000005.9:g.179251229C>T	-
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001948035;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251230	179251230	179251230	-
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002625293;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251230	179251230	NC_000005.9:g.179251230G>A	-
NM_003900.5(SQSTM1):c.588A>G (p.Pro196_Gly197=)	8878	SQSTM1	Likely benign	-1	RCV002838545;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251238	179251238	NC_000005.9:g.179251238A>G	-
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)	8878	SQSTM1	Uncertain significance	-1	RCV003033761;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251254	179251254	NC_000005.9:g.179251254C>T	-
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=)	8878	SQSTM1	Likely benign	-1	RCV001440036;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251256	179251256	179251256	-
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)	8878	SQSTM1	Uncertain significance	-1	RCV002908351;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251258	179251258	NC_000005.9:g.179251258C>T	-
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=)	8878	SQSTM1	Likely benign	-1	RCV002163040;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251259	179251259	179251259	-
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs878982215	RCV000387568\|RCV000544510;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251262	179251262	NC_000005.9:g.179251262A>G	ClinGen:CA10624299	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs771036207	RCV001151638\|RCV002070838;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251265	179251265	5:g.179251265C>T	-
NM_003900.5(SQSTM1):c.621C>T (p.Ser207_Pro208=)	8878	SQSTM1	Likely benign	-1	RCV002953863;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251271	179251271	NC_000005.9:g.179251271C>T	-
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001954091;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251272	179251272	179251272	-
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu)	8878	SQSTM1	Uncertain significance	rs1757909856	RCV001058697;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251273	179251273	5:g.179251273C>T	-
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)	8878	SQSTM1	Uncertain significance	rs1478180381	RCV001063668\|RCV002221262\|RCV002261270;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MedGen:CN517202	5	179251275	179251275	5:g.179251275C>T	-
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)	8878	SQSTM1	Uncertain significance	rs1303154345	RCV001039649\|RCV002462269;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179251276	179251276	5:g.179251276G>A	-
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del)	8878	SQSTM1	Uncertain significance	rs747274001	RCV001050881;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251277	179251279	5:g.179251277_179251279del	-
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser)	8878	SQSTM1	Uncertain significance	-1	RCV001989878;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251278	179251278	179251278	-
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)	8878	SQSTM1	Uncertain significance	-1	RCV002640463;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251281	179251281	NC_000005.9:g.179251281C>T	-
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)	8878	SQSTM1	Uncertain significance	rs368010261	RCV000824517;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251282	179251282	5:g.179251282C>G	-
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002469436\|RCV001965396;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251284	179251284	179251284	-
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002003261\|RCV002592532;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179251284	179251284	179251284	-
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)	8878	SQSTM1	Uncertain significance	-1	RCV002948877\|RCV002948876;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179251285	179251285	NC_000005.9:g.179251285G>A	-
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)	8878	SQSTM1	Uncertain significance	rs867275286	RCV000798415\|RCV001151639;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179251299	179251299	5:g.179251299C>T	-
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)	8878	SQSTM1	Uncertain significance	rs761822261	RCV000797922\|RCV002537061;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MeSH:D030342,MedGen:C0950123	5	179251300	179251300	5:g.179251300G>A	-
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=)	8878	SQSTM1	Likely benign	-1	RCV001396909;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251304	179251304	179251304	-
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)	8878	SQSTM1	Uncertain significance	rs199663339	RCV000798436\|RCV001772056;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN517202	5	179251312	179251312	5:g.179251312C>T	-
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=)	8878	SQSTM1	Likely benign	rs758128093	RCV001295215;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251313	179251313	179251313	-
NM_003900.5(SQSTM1):c.673+9T>G	8878	SQSTM1	Likely benign	-1	RCV002098997;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251332	179251332	179251332	-
NM_003900.5(SQSTM1):c.673+10G>C	8878	SQSTM1	Likely benign	rs753023157	RCV000928278\|RCV001455594;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179251333	179251333	5:g.179251333G>C	-
NM_003900.5(SQSTM1):c.673+19C>T	8878	SQSTM1	Likely benign	-1	RCV002579909;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179251342	179251342	NC_000005.9:g.179251342C>T	-
NM_003900.5(SQSTM1):c.674-18T>G	8878	SQSTM1	Uncertain significance	-1	RCV001893177;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252128	179252128	179252128	-
NM_003900.5(SQSTM1):c.674-17C>T	8878	SQSTM1	Likely benign	-1	RCV002101545;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252129	179252129	179252129	-
NM_003900.5(SQSTM1):c.674-13G>A	8878	SQSTM1	Likely benign	-1	RCV001970193;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252133	179252133	179252133	-
NM_003900.5(SQSTM1):c.674-7dup	8878	SQSTM1	Benign	-1	RCV002095681;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252134	179252135	179252134	-
NM_003900.5(SQSTM1):c.674-7A>C	8878	SQSTM1	Likely benign	rs776278684	RCV000908405;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252139	179252139	5:g.179252139A>C	-
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)	8878	SQSTM1	Likely benign	-1	RCV002083669;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252146	179252146	179252146	-
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)	8878	SQSTM1	Uncertain significance	rs151191977	RCV000560324\|RCV001755904;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179252155	179252155	NC_000005.9:g.179252155C>T	ClinGen:CA3600616	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu)	8878	SQSTM1	Uncertain significance	-1	RCV001903876;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252158	179252158	179252158	-
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs140341924	RCV000293194\|RCV001365629;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252159	179252159	NC_000005.9:g.179252159G>A	ClinGen:CA3600618	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=)	8878	SQSTM1	Likely benign	-1	RCV002145345;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252159	179252159	179252159	-
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)	8878	SQSTM1	Uncertain significance	rs757778292	RCV001245045;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252167	179252167	5:g.179252167C>T	-
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=)	8878	SQSTM1	Likely benign	-1	RCV001481299;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252168	179252168	179252168	-
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)	8878	SQSTM1	Uncertain significance	-1	RCV002297505;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252170	179252170	179252170	-
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)	8878	SQSTM1	Uncertain significance	-1	RCV002008141;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252175	179252175	179252175	-
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002876335;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252179	179252179	NC_000005.9:g.179252179T>G	-
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)	8878	SQSTM1	Uncertain significance	rs796052214	RCV000184067\|RCV000694548;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252183	179252185	NC_000005.9:g.179252183GAA[1]	ClinGen:CA203870,OMIM:601530.0007	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)	8878	SQSTM1	Benign/Likely benign	rs11548633	RCV000529531\|RCV001151640\|RCV001288016\|RCV001591289;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN169374\|MedGen:CN517202	5	179252184	179252184	5:g.179252184A>G	ClinGen:CA3600625	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=)	8878	SQSTM1	Likely benign	rs747314158	RCV000899036\|RCV001421163;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252189	179252189	5:g.179252189C>T	-
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)	8878	SQSTM1	Uncertain significance	-1	RCV002931996;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252190	179252190	NC_000005.9:g.179252190G>A	-
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)	8878	SQSTM1	Uncertain significance	-1	RCV001940796;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252191	179252191	179252191	-
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=)	8878	SQSTM1	Likely benign	-1	RCV002079385;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252195	179252195	179252195	-
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=)	8878	SQSTM1	Likely benign	-1	RCV002143185;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252195	179252195	179252195	-
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)	8878	SQSTM1	Uncertain significance	-1	RCV001930150;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252199	179252199	179252199	-
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)	8878	SQSTM1	Uncertain significance	rs1325278483	RCV001337179;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252200	179252200	179252200	-
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)	8878	SQSTM1	Uncertain significance	-1	RCV003064783;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252200	179252200	NC_000005.9:g.179252200G>C	-
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)	8878	SQSTM1	Likely benign	rs762767720	RCV000946105;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252206	179252206	5:g.179252206C>T	-
NM_003900.5(SQSTM1):c.751C>T (p.Leu251_Gly252=)	8878	SQSTM1	Likely benign	-1	RCV002814594;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252223	179252223	NC_000005.9:g.179252223C>T	-
NM_003900.5(SQSTM1):c.754+11C>T	8878	SQSTM1	Likely benign	-1	RCV002771513;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179252237	179252237	NC_000005.9:g.179252237C>T	-
NM_003900.5(SQSTM1):c.754+13C>A	8878	SQSTM1	Likely benign	-1	RCV002168422;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179252239	179252239	179252239	-
NM_003900.5(SQSTM1):c.755-90dup	8878	SQSTM1	Benign	-1	RCV001514643;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179259941	179259942	179259941	-
NC_000005.9:g.(?_179260012)_(179260802_?)del	8878	SQSTM1	Uncertain significance	-1	RCV001980096;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260012	179260802	-1	-
NM_003900.5(SQSTM1):c.755-20C>G	8878	SQSTM1	Likely benign	-1	RCV003070972;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260012	179260012	NC_000005.9:g.179260012C>G	-
NM_003900.5(SQSTM1):c.755-12C>T	8878	SQSTM1	Likely benign	-1	RCV002101478;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260020	179260020	179260020	-
NM_003900.5(SQSTM1):c.755-12C>G	8878	SQSTM1	Benign	-1	RCV002603784;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260020	179260020	NC_000005.9:g.179260020C>G	-
NM_003900.5(SQSTM1):c.755-10C>T	8878	SQSTM1	Likely benign	-1	RCV002086910;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260022	179260022	179260022	-
NM_003900.5(SQSTM1):c.755-9C>T	8878	SQSTM1	Likely benign	rs759140266	RCV000876907\|RCV002064869;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260023	179260023	5:g.179260023C>T	-
NM_003900.5(SQSTM1):c.755-8G>T	8878	SQSTM1	Likely benign	rs369581639	RCV000902931\|RCV001470146;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260024	179260024	5:g.179260024G>T	-
NM_003900.5(SQSTM1):c.755-8G>A	8878	SQSTM1	Likely benign	rs369581639	RCV000952382;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260024	179260024	5:g.179260024G>A	-
NM_003900.5(SQSTM1):c.755-7C>T	8878	SQSTM1	Likely benign	rs781389243	RCV000900490\|RCV002065687;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260025	179260025	5:g.179260025C>T	-
NM_003900.5(SQSTM1):c.755-4C>T	8878	SQSTM1	Likely benign	-1	RCV002771397;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260028	179260028	NC_000005.9:g.179260028C>T	-
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs769297000	RCV000444659\|RCV001055830;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260033	179260033	5:g.179260033C>T	ClinGen:CA16604940	CN169374 not specified;
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001965975;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260035	179260035	179260035	-
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)	8878	SQSTM1	Likely benign	rs182522590	RCV000544306;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260040	179260040	5:g.179260040G>C	ClinGen:CA3600669	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)	8878	SQSTM1	Uncertain significance	rs182522590	RCV000699070;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260040	179260040	5:g.179260040G>A	-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)	8878	SQSTM1	Uncertain significance	rs988411948	RCV001055265;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260044	179260044	5:g.179260044A>G	-
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala)	8878	SQSTM1	Uncertain significance	-1	RCV001933266;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260044	179260044	179260044	-
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)	8878	SQSTM1	Uncertain significance	-1	RCV001882164\|RCV002554174\|RCV003107877;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	5	179260046	179260046	179260046	-
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001875227;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260047	179260047	179260047	-
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)	8878	SQSTM1	Uncertain significance	-1	RCV001986909;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260048	179260048	179260048	-
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)	8878	SQSTM1	Likely benign	-1	RCV002125353;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260048	179260048	179260048	-
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)	8878	SQSTM1	Uncertain significance	-1	RCV002050182;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260049	179260049	179260049	-
NM_003900.5(SQSTM1):c.783C>T (p.His261=)	8878	SQSTM1	Likely benign	rs145001811	RCV000875927;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260060	179260060	5:g.179260060C>T	-
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001899268;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260061	179260061	179260061	-
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)	8878	SQSTM1	Uncertain significance	-1	RCV003092453;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260062	179260062	NC_000005.9:g.179260062G>A	-
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=)	8878	SQSTM1	Likely benign	-1	RCV002137637;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260063	179260063	179260063	-
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)	8878	SQSTM1	Benign	-1	RCV001513780;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260066	179260066	179260066	-
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys)	8878	SQSTM1	Uncertain significance	rs138928957	RCV000493131\|RCV001367649;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260076	179260076	5:g.179260076C>T	ClinGen:CA3600685	CN169374 not specified;
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)	8878	SQSTM1	Uncertain significance	rs149424705	RCV000558963\|RCV002527912;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179260077	179260077	NC_000005.9:g.179260077G>A	ClinGen:CA3600686	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)	8878	SQSTM1	Uncertain significance	rs753685955	RCV000652540;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260079	179260079	NC_000005.9:g.179260079C>G	ClinGen:CA3600687	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro)	8878	SQSTM1	Uncertain significance	rs745853858	RCV001056835;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260082	179260082	5:g.179260082A>C	-
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)	8878	SQSTM1	Uncertain significance	-1	RCV002046928;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260082	179260082	179260082	-
NM_003900.5(SQSTM1):c.810del (p.Val271fs)	8878	SQSTM1	Pathogenic	rs1758316662	RCV001242238;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260083	179260083	5:g.179260083_179260083del	-
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)	8878	SQSTM1	Likely benign	-1	RCV002130305;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260084	179260084	179260084	-
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser)	8878	SQSTM1	Uncertain significance	rs1194274800	RCV001219124;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260085	179260085	5:g.179260085C>T	-
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=)	8878	SQSTM1	Likely benign	rs1280918343	RCV000890654;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260087	179260087	5:g.179260087C>T	-
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)	8878	SQSTM1	Uncertain significance	rs376283809	RCV000352872\|RCV001324955;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260088	179260088	NC_000005.9:g.179260088G>A	ClinGen:CA3600695	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)	8878	SQSTM1	Pathogenic	-1	RCV002600639;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260092	179260095	NC_000005.9:g.179260092_179260095del	-
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002626332;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260092	179260092	NC_000005.9:g.179260092C>G	-
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)	8878	SQSTM1	Benign/Likely benign	rs200388590	RCV000401795\|RCV000537274;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260096	179260096	NC_000005.9:g.179260096A>G	ClinGen:CA3600697	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)	8878	SQSTM1	Pathogenic	rs1273214757	RCV000519042\|RCV002252156\|RCV002525201;	N	MedGen:CN517202\|\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260096	179260097	5:g.179260096_179260097del	ClinGen:CA362451165	CN517202 not provided;
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)	8878	SQSTM1	Pathogenic	-1	RCV003002562;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260097	179260097	NC_000005.9:g.179260097G>T	-
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)	8878	SQSTM1	Benign/Likely benign	rs55793208	RCV000246116\|RCV000306263\|RCV000547475\|RCV000625251\|RCV001683041;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260099	179260099	5:g.179260099G>C	ClinGen:CA3600699,UniProtKB:Q13501#VAR_061707	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002636543;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260100	179260100	NC_000005.9:g.179260100A>T	-
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)	8878	SQSTM1	Uncertain significance	-1	RCV001576971\|RCV001882690\|RCV002569088;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179260101	179260101	179260101	-
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)	8878	SQSTM1	Uncertain significance	rs202119215	RCV001228318;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260104	179260104	5:g.179260104C>T	-
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002038147;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260106	179260106	179260106	-
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)	8878	SQSTM1	Uncertain significance	-1	RCV002715016;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260110	179260110	NC_000005.9:g.179260110C>T	-
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs752009611	RCV000557592\|RCV000993090;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260112	179260114	5:g.179260112_179260114del	ClinGen:CA3600703	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=)	8878	SQSTM1	Likely benign	-1	RCV002127597;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260114	179260114	179260114	-
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)	8878	SQSTM1	Uncertain significance	-1	RCV002035535;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260124	179260124	179260124	-
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001883657;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260125	179260125	179260125	-
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)	8878	SQSTM1	Uncertain significance	rs764205744	RCV001348967;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260127	179260127	179260127	-
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)	8878	SQSTM1	Uncertain significance	rs754060027	RCV001219730;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260134	179260134	5:g.179260134C>T	-
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV001872351\|RCV003136218;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260143	179260143	179260143	-
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)	8878	SQSTM1	Benign	rs4935	RCV000251052\|RCV000347125\|RCV000600605\|RCV000713546\|RCV001518408\|RCV001808694\|RCV001808695\|RCV001808696;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0	5	179260153	179260153	NC_000005.9:g.179260153C>T	ClinGen:CA3600710	CN169374 not specified;
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=)	8878	SQSTM1	Likely benign	-1	RCV001433262;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260162	179260162	179260162	-
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu)	8878	SQSTM1	Uncertain significance	rs376459756	RCV001326526;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260164	179260164	179260164	-
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)	8878	SQSTM1	Benign	rs148984239	RCV000551792\|RCV001724060;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260165	179260165	NC_000005.9:g.179260165G>A	ClinGen:CA3600715	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)	8878	SQSTM1	Likely benign	-1	RCV001426512;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260165	179260165	179260165	-
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001935832;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260169	179260169	179260169	-
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln)	8878	SQSTM1	Uncertain significance	rs1258386028	RCV001221316;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260178	179260178	5:g.179260178G>C	-
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)	8878	SQSTM1	Pathogenic	-1	RCV003090306;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260178	179260178	NC_000005.9:g.179260178G>T	-
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)	8878	SQSTM1	Benign	rs11548642	RCV000525538\|RCV001154681\|RCV001534690;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179260183	179260183	NC_000005.9:g.179260183C>T	ClinGen:CA3600720	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)	8878	SQSTM1	Uncertain significance	-1	RCV002044968;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260184	179260184	179260184	-
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)	8878	SQSTM1	Likely benign	-1	RCV001422431;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260185	179260185	179260185	-
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)	8878	SQSTM1	Uncertain significance	-1	RCV001898695;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260188	179260188	179260188	-
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs370970067	RCV000398656\|RCV002058528;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260189	179260189	NC_000005.9:g.179260189G>A	ClinGen:CA3600723	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.921G>A (p.Leu307_Ala308=)	8878	SQSTM1	Likely benign	-1	RCV002583932;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260198	179260198	NC_000005.9:g.179260198G>A	-
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)	8878	SQSTM1	Uncertain significance	-1	RCV001864185;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260200	179260200	179260200	-
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002942822;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260200	179260200	NC_000005.9:g.179260200C>A	-
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs139482113	RCV000242491\|RCV000535702\|RCV000625252\|RCV001154682\|RCV001576573;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179260201	179260201	NC_000005.9:g.179260201G>A	ClinGen:CA3600727	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=)	8878	SQSTM1	Likely benign	rs766129922	RCV000888125;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260204	179260204	5:g.179260204G>A	-
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)	8878	SQSTM1	Uncertain significance	-1	RCV001875660;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260211	179260211	179260211	-
NM_003900.5(SQSTM1):c.934A>C (p.Arg312_Lys313=)	8878	SQSTM1	Likely benign	-1	RCV002890209;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260211	179260211	NC_000005.9:g.179260211A>C	-
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)	8878	SQSTM1	Benign	rs4797	RCV000245665\|RCV000302608\|RCV000713547\|RCV000607666\|RCV001522453\|RCV001808697\|RCV001808699\|RCV001808698;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0	5	179260213	179260213	5:g.179260213G>A	ClinGen:CA3600734	CN169374 not specified;
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002650102;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260213	179260214	NC_000005.9:g.179260213_179260214delinsAG	-
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002041283;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260215	179260215	179260215	-
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)	8878	SQSTM1	Likely benign	-1	RCV001445288;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260219	179260219	179260219	-
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met)	8878	SQSTM1	Uncertain significance	-1	RCV001899947;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260219	179260219	179260219	-
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001905707;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260220	179260220	179260220	-
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)	8878	SQSTM1	Benign	-1	RCV002081086;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260223	179260223	179260223	-
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)	8878	SQSTM1	Benign	rs56092424	RCV000250823\|RCV000359637\|RCV000550463\|RCV000625253\|RCV001668495;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260231	179260231	NC_000005.9:g.179260231C>T	ClinGen:CA3600738	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)	8878	SQSTM1	Benign	rs61748794	RCV000267289\|RCV000528742\|RCV001288017\|RCV001723954;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MedGen:CN169374\|MedGen:CN517202	5	179260232	179260232	NC_000005.9:g.179260232G>A	ClinGen:CA3600739,UniProtKB:Q13501#VAR_073928	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)	8878	SQSTM1	Uncertain significance	rs747589104	RCV000305972\|RCV001368199\|RCV002520366;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179260236	179260236	NC_000005.9:g.179260236G>A	ClinGen:CA3600740	C0029401 Paget disease of bone;
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)	8878	SQSTM1	Benign/Likely benign	rs140226523	RCV000242587\|RCV000353810\|RCV000713548\|RCV001086021;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260238	179260238	NC_000005.9:g.179260238C>T	ClinGen:CA3600742,UniProtKB:Q13501#VAR_073929	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)	8878	SQSTM1	Uncertain significance	rs752889531	RCV000817686\|RCV001155512\|RCV001779082\|RCV002252249;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202\|	5	179260239	179260239	5:g.179260239G>A	-
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)	8878	SQSTM1	Uncertain significance	-1	RCV001982236;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260241	179260241	179260241	-
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)	8878	SQSTM1	Uncertain significance	-1	RCV002619276;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260241	179260241	NC_000005.9:g.179260241C>A	-
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)	8878	SQSTM1	Uncertain significance	-1	RCV001916615;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260246	179260246	179260246	-
NM_003900.5(SQSTM1):c.969+14C>T	8878	SQSTM1	Likely benign	-1	RCV003073048;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260260	179260260	NC_000005.9:g.179260260C>T	-
NM_003900.5(SQSTM1):c.969+19C>T	8878	SQSTM1	Likely benign	-1	RCV002110126;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260265	179260265	179260265	-
NM_003900.5(SQSTM1):c.969+20G>A	8878	SQSTM1	Benign	-1	RCV002188994;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260266	179260266	179260266	-
NC_000005.9:g.(?_179260567)_(179263593_?)dup	8878	SQSTM1	Uncertain significance	-1	RCV003107770;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260567	179263593		-
NM_003900.5(SQSTM1):c.970-14G>A	8878	SQSTM1	Likely benign	-1	RCV002128049;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260573	179260573	179260573	-
NM_003900.5(SQSTM1):c.970-13A>G	8878	SQSTM1	Likely benign	-1	RCV002208466;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260574	179260574	179260574	-
NM_003900.5(SQSTM1):c.970-8T>C	8878	SQSTM1	Likely benign	-1	RCV002923466;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260579	179260579	NC_000005.9:g.179260579T>C	-
NM_003900.5(SQSTM1):c.970-2A>G	8878	SQSTM1	Likely pathogenic	-1	RCV001977620;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260585	179260585	179260585	-
NM_003900.4(SQSTM1):c.970del	8878	SQSTM1	Uncertain significance	rs758377403	RCV000652542\|RCV001756100;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260586	179260586	5:g.179260586_179260586del	ClinGen:CA3600771	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)	8878	SQSTM1	Uncertain significance	rs1436000961	RCV001214593;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260587	179260587	5:g.179260587G>A	-
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)	8878	SQSTM1	Pathogenic	-1	RCV002726291;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260594	179260595	NC_000005.9:g.179260596dup	-
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)	8878	SQSTM1	Uncertain significance	-1	RCV001970858;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260596	179260596	179260596	-
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)	8878	SQSTM1	Benign/Likely benign	rs146164139	RCV000553632\|RCV001155513\|RCV001619791\|RCV001579386\|RCV002497188;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250; MONDO:MONDO:0	5	179260601	179260601	NC_000005.9:g.179260601G>A	ClinGen:CA3600774	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)	8878	SQSTM1	Uncertain significance	-1	RCV002780055;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260602	179260602	NC_000005.9:g.179260602G>A	-
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)	8878	SQSTM1	Uncertain significance	rs148294622	RCV000805330\|RCV001157194\|RCV003141806;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179260603	179260603	5:g.179260603A>G	-
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)	8878	SQSTM1	Uncertain significance	-1	RCV003026403;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260606	179260606	NC_000005.9:g.179260606A>C	-
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	8878	SQSTM1	Pathogenic	rs1185406298	RCV000795535;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260612	179260612	5:g.179260612C>G	-
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)	8878	SQSTM1	Uncertain significance	rs1185406298	RCV000801848;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260612	179260612	5:g.179260612C>T	-
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs141436407	RCV000518450\|RCV000625254\|RCV000872567\|RCV001157195;	N	MedGen:CN169374\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179260613	179260613	5:g.179260613A>G	ClinGen:CA3600778	CN169374 not specified;
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)	8878	SQSTM1	Uncertain significance	-1	RCV001370619\|RCV001664855;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260613	179260615	179260612	-
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)	8878	SQSTM1	Uncertain significance	-1	RCV001993632;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260615	179260615	179260615	-
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002720711;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260618	179260618	NC_000005.9:g.179260618G>A	-
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334_Asp335=)	8878	SQSTM1	Likely benign	-1	RCV002691247;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260619	179260619	NC_000005.9:g.179260619A>T	-
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)	8878	SQSTM1	Uncertain significance	-1	RCV002586274;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260620	179260622	NC_000005.9:g.179260622TGA[1]	-
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)	8878	SQSTM1	Uncertain significance	rs1554091442	RCV000652543;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260623	179260623	NC_000005.9:g.179260623G>A	ClinGen:CA362452444	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002957371;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260631	179260631	NC_000005.9:g.179260631G>C	-
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)	8878	SQSTM1	Uncertain significance	rs982817243	RCV001244778;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260649	179260649	5:g.179260649A>G	-
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)	8878	SQSTM1	Uncertain significance	rs1250501488	RCV001345729\|RCV001751675;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260654	179260654	179260654	-
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)	8878	SQSTM1	Benign/Likely benign	rs150470670	RCV000713542\|RCV001089195;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260655	179260655	NC_000005.9:g.179260655G>A	-
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)	8878	SQSTM1	Uncertain significance	-1	RCV002675753;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260656	179260656	NC_000005.9:g.179260656G>A	-
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)	8878	SQSTM1	Uncertain significance	rs772889843	RCV000479124\|RCV001361623;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260660	179260660	5:g.179260660C>T	ClinGen:CA16618194	CN169374 not specified;
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)	8878	SQSTM1	Benign	rs10058037	RCV000249521\|RCV000261149\|RCV000535559\|RCV001610641;	N	MedGen:CN169374\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179260661	179260661	5:g.179260661G>A	ClinGen:CA3600786	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr)	8878	SQSTM1	Uncertain significance	rs774512680	RCV001318759;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260662	179260662	179260662	-
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=)	8878	SQSTM1	Likely benign	-1	RCV002215223;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260667	179260667	179260667	-
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln)	8878	SQSTM1	Uncertain significance	rs765610848	RCV001313419;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260671	179260671	179260671	-
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)	8878	SQSTM1	Conflicting interpretations of pathogenicity	-1	RCV001761581\|RCV001868769;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260671	179260671	179260671	-
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs)	8878	SQSTM1	Uncertain significance	rs1758356210	RCV001307517;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260676	179260676	179260675	-
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs)	8878	SQSTM1	Uncertain significance	rs781417955	RCV001253302\|RCV002570530;	N	MONDO:MONDO:0014940,MedGen:C4310693,OMIM:617145\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260677	179260678	5:g.179260677_179260678del	-
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)	8878	SQSTM1	Uncertain significance	-1	RCV003036736;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260677	179260677	NC_000005.9:g.179260677C>A	-
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)	8878	SQSTM1	Uncertain significance	-1	RCV002662987;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260679	179260679	NC_000005.9:g.179260679G>C	-
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002003978;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260686	179260686	179260686	-
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002995847;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260687	179260687	NC_000005.9:g.179260687A>G	-
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)	8878	SQSTM1	Uncertain significance	-1	RCV003079693;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260688	179260688	NC_000005.9:g.179260688G>T	-
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val)	8878	SQSTM1	Uncertain significance	-1	RCV001360538;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260689	179260689	179260689	-
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)	8878	SQSTM1	Uncertain significance	-1	RCV003025636;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260691	179260691	NC_000005.9:g.179260691G>A	-
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=)	8878	SQSTM1	Likely benign	-1	RCV002112511;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260694	179260694	179260694	-
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=)	8878	SQSTM1	Likely benign	-1	RCV001397479;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260700	179260700	179260700	-
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)	8878	SQSTM1	Uncertain significance	rs535932454	RCV000811231;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260701	179260701	5:g.179260701G>A	-
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)	8878	SQSTM1	Likely benign	rs375495050	RCV000550465;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260705	179260705	5:g.179260705G>A	ClinGen:CA3600795	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=)	8878	SQSTM1	Likely benign	-1	RCV002170000;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260706	179260706	179260706	-
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)	8878	SQSTM1	Uncertain significance	-1	RCV001990306;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260707	179260707	179260707	-
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)	8878	SQSTM1	Uncertain significance	rs1582022482	RCV000802926;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260714	179260714	5:g.179260714C>G	-
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=)	8878	SQSTM1	Likely benign	-1	RCV002035275;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260721	179260721	179260721	-
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)	8878	SQSTM1	Uncertain significance	-1	RCV002303775;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260721	179260721	179260721	-
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs143956614	RCV000518391\|RCV000873769\|RCV001157196\|RCV001579517;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN517202	5	179260725	179260725	NC_000005.9:g.179260725T>C	ClinGen:CA3600800	CN169374 not specified;
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)	8878	SQSTM1	Uncertain significance	-1	RCV002019439;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260726	179260726	179260726	-
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)	8878	SQSTM1	Uncertain significance	-1	RCV003090835;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260728	179260728	NC_000005.9:g.179260728C>A	-
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=)	8878	SQSTM1	Likely benign	rs778199086	RCV000912895;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260739	179260739	5:g.179260739C>T	-
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=)	8878	SQSTM1	Likely benign	-1	RCV002165589;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260745	179260745	179260745	-
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=)	8878	SQSTM1	Likely benign	rs778833279	RCV000930408;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260751	179260751	5:g.179260751G>A	-
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)	8878	SQSTM1	Uncertain significance	-1	RCV002039963;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260756	179260756	179260756	-
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)	8878	SQSTM1	Uncertain significance	-1	RCV001361780\|RCV002547783;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MeSH:D030342,MedGen:C0950123	5	179260759	179260759	179260759	-
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)	8878	SQSTM1	Uncertain significance	-1	RCV002584889;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260764	179260764	NC_000005.9:g.179260764T>C	-
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383_Pro384=)	8878	SQSTM1	Likely benign	-1	RCV002775640;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260766	179260766	NC_000005.9:g.179260766C>T	-
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)	8878	SQSTM1	Uncertain significance	-1	RCV002918613;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260768	179260768	NC_000005.9:g.179260768C>T	-
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=)	8878	SQSTM1	Likely benign	-1	RCV002200763;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260769	179260769	179260769	-
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg)	8878	SQSTM1	Uncertain significance	-1	RCV001898928;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260771	179260771	179260771	-
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)	8878	SQSTM1	Uncertain significance	-1	RCV003039685;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260773	179260773	NC_000005.9:g.179260773C>G	-
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	8878	SQSTM1	Conflicting interpretations of pathogenicity	rs776749939	RCV000184065\|RCV000481808\|RCV001323701;	N	MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803\|MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260777	179260777	NC_000005.9:g.179260777C>T	ClinGen:CA203868,UniProtKB:Q13501#VAR_023592,OMIM:601530.0005	C4225326 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=)	8878	SQSTM1	Likely benign	-1	RCV001461223;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179260778	179260778	179260778	-
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387_Pro388=)	8878	SQSTM1	Likely benign	-1	RCV003084612;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260778	179260778	NC_000005.9:g.179260778G>T	-
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)	8878	SQSTM1	Pathogenic	-1	RCV001949681;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260782	179260782	179260782	-
NM_003900.5(SQSTM1):c.1165+1G>A	8878	SQSTM1	Pathogenic	rs796051870	RCV000008578\|RCV000652541\|RCV001799592;	N	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0014945,MedGen:C5399975,OMIM:617158	5	179260783	179260783	NC_000005.9:g.179260783G>A	ClinGen:CA340743,OMIM:601530.0003	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1165+7G>T	8878	SQSTM1	Likely benign	-1	RCV002976478;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260789	179260789	NC_000005.9:g.179260789G>T	-
NM_003900.5(SQSTM1):c.1165+9del	8878	SQSTM1	Likely benign	-1	RCV002819726;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260790	179260790	NC_000005.9:g.179260791del	-
NM_003900.5(SQSTM1):c.1165+9A>G	8878	SQSTM1	Benign	rs138885571	RCV000951513;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260791	179260791	5:g.179260791A>G	-
NM_003900.5(SQSTM1):c.1165+10C>T	8878	SQSTM1	Likely benign	-1	RCV002976480;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260792	179260792	NC_000005.9:g.179260792C>T	-
NM_003900.5(SQSTM1):c.1165+12A>G	8878	SQSTM1	Likely benign	-1	RCV002630297;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260794	179260794	NC_000005.9:g.179260794A>G	-
NM_003900.5(SQSTM1):c.1165+15A>T	8878	SQSTM1	Likely benign	-1	RCV002138700;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179260797	179260797	179260797	-
NC_000005.9:g.(?_179263416)_(179263593_?)del	8878	SQSTM1	Uncertain significance	-1	RCV001940187;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263416	179263593	-1	-
NM_003900.5(SQSTM1):c.1166-14_1166-11del	8878	SQSTM1	Benign/Likely benign	-1	RCV001514570\|RCV002568025;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MeSH:D030342,MedGen:C0950123	5	179263420	179263423	179263419	-
NM_003900.5(SQSTM1):c.1166-12C>T	8878	SQSTM1	Likely benign	-1	RCV002192294;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263424	179263424	179263424	-
NC_000005.10:g.(?_179836426)_(179836603_?)del	8878	SQSTM1	Uncertain significance	-1	RCV001033406;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263426	179263603	-1	-
NM_003900.5(SQSTM1):c.1166-6C>T	8878	SQSTM1	Likely benign	-1	RCV002083689;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263430	179263430	179263430	-
NM_003900.5(SQSTM1):c.1166-5G>A	8878	SQSTM1	Uncertain significance	rs765613974	RCV000701499\|RCV001157197;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179263431	179263431	NC_000005.9:g.179263431G>A	-	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1166-2A>G	8878	SQSTM1	Uncertain significance	-1	RCV002587274;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263434	179263434	NC_000005.9:g.179263434A>G	-
NM_003900.5(SQSTM1):c.1166-1G>A	8878	SQSTM1	Uncertain significance	rs529512338	RCV001236219;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263435	179263435	5:g.179263435G>A	-
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)	8878	SQSTM1	Uncertain significance	-1	RCV002045955;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263438	179263438	179263438	-
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)	8878	SQSTM1	Pathogenic	-1	RCV001381373;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263440	179263440	179263439	-
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=)	8878	SQSTM1	Likely benign	-1	RCV001433346;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263440	179263440	179263440	-
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)	8878	SQSTM1	Uncertain significance	-1	RCV001909552;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263441	179263441	179263441	-
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)	8878	SQSTM1	Pathogenic	-1	RCV003060023;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263443	179263443	NC_000005.9:g.179263445del	-
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)	8878	SQSTM1	Benign/Likely benign	rs75700262	RCV000652549\|RCV001157198\|RCV001288014\|RCV002275116\|RCV002493049;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014945,MedGen:C5399975,OMIM:617158; MONDO:MONDO:0	5	179263446	179263446	NC_000005.9:g.179263446G>A	ClinGen:CA3600850	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp)	8878	SQSTM1	Uncertain significance	rs539942101	RCV001233596;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263447	179263447	5:g.179263447C>T	-
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)	8878	SQSTM1	Uncertain significance	rs200551825	RCV000528145;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263448	179263448	NC_000005.9:g.179263448G>A	ClinGen:CA3600852	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)	8878	SQSTM1	Pathogenic	rs1254158201	RCV001036644;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263453	179263454	5:g.179263453_179263454insT	-
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001958230;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263454	179263454	179263454	-
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)	8878	SQSTM1	Uncertain significance	-1	RCV002993995;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263460	179263460	NC_000005.9:g.179263460C>A	-
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)	8878	SQSTM1	Uncertain significance	-1	RCV002303887;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263468	179263468	179263468	-
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)	8878	SQSTM1	Likely benign	rs201795943	RCV000952476;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263471	179263471	5:g.179263471A>C	-
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu)	8878	SQSTM1	Likely benign	rs201795943	RCV001301499;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263471	179263471	179263471	-
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=)	8878	SQSTM1	Likely benign	-1	RCV002135118;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263476	179263476	179263476	-
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)	8878	SQSTM1	Uncertain significance	-1	RCV002474117\|RCV002571508;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263477	179263477	NC_000005.9:g.179263477T>A	-
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)	8878	SQSTM1	Uncertain significance	-1	RCV002596416;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263477	179263477	NC_000005.9:g.179263477T>G	-
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)	8878	SQSTM1	Pathogenic	-1	RCV001383720;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263480	179263480	179263480	-
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)	8878	SQSTM1	Pathogenic	rs1247551175	RCV001060204;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263481	179263481	5:g.179263481T>C	-
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=)	8878	SQSTM1	Likely benign	-1	RCV001400728;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263485	179263485	179263485	-
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=)	8878	SQSTM1	Likely benign	rs766437927	RCV000420992\|RCV000538297;	N	MedGen:CN169374\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263500	179263500	5:g.179263500C>T	ClinGen:CA3600866	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	8878	SQSTM1	Pathogenic	-1	RCV001972785;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263501	179263501	179263501	-
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)	8878	SQSTM1	Uncertain significance	-1	RCV003068240;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263511	179263511	NC_000005.9:g.179263511C>T	-
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=)	8878	SQSTM1	Likely benign	rs1554092111	RCV000548505;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263512	179263512	NC_000005.9:g.179263512C>A	ClinGen:CA362453986	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)	8878	SQSTM1	Benign/Likely benign	rs148278350	RCV000527905\|RCV001084960\|RCV001157199;	N	MedGen:CN517202\|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179263515	179263515	5:g.179263515G>A	ClinGen:CA3600869	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417_Gln418=)	8878	SQSTM1	Likely benign	-1	RCV003083356;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263519	179263519	NC_000005.9:g.179263519C>T	-
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)	8878	SQSTM1	Uncertain significance	-1	RCV002775176;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263524	179263524	NC_000005.9:g.179263524G>C	-
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=)	8878	SQSTM1	Likely benign	-1	RCV001425268;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263533	179263533	179263533	-
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys)	8878	SQSTM1	Uncertain significance	-1	RCV002038210;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263535	179263535	179263535	-
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423_Ile424=)	8878	SQSTM1	Likely benign	-1	RCV002966089;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263539	179263539	NC_000005.9:g.179263539C>T	-
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)	8878	SQSTM1	Likely benign	rs374985304	RCV000713544\|RCV001425590;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263542	179263542	5:g.179263542C>T	ClinGen:CA3600874	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)	8878	SQSTM1	Conflicting interpretations of pathogenicity	-1	RCV001508538\|RCV001882557;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263543	179263543	179263543	-
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001987177;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263546	179263546	179263546	-
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)	8878	SQSTM1	Uncertain significance	rs201239306	RCV001046829\|RCV001157200;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179263547	179263547	5:g.179263547C>T	-
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)	8878	SQSTM1	Likely benign	rs143977783	RCV000542637\|RCV001579638;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MedGen:CN517202	5	179263548	179263548	NC_000005.9:g.179263548G>A	ClinGen:CA3600877	C1862937 105550 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=)	8878	SQSTM1	Likely benign	-1	RCV001455951;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263554	179263554	179263554	-
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)	8878	SQSTM1	Uncertain significance	-1	RCV001946229;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263558	179263558	179263558	-
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)	8878	SQSTM1	Uncertain significance	-1	RCV002038237;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263567	179263567	179263567	-
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)	8878	SQSTM1	Uncertain significance	rs759646319	RCV001218838\|RCV003142168;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	5	179263583	179263583	5:g.179263583C>T	-
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)	8878	SQSTM1	Uncertain significance	-1	RCV002819948;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263583	179263583	NC_000005.9:g.179263583C>G	-
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)	8878	SQSTM1	Benign	rs182058393	RCV000945834\|RCV001517050;	N	MedGen:CN517202\|MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263584	179263584	5:g.179263584G>A	-
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)	8878	SQSTM1	Uncertain significance	-1	RCV002881897;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263584	179263585	NC_000005.9:g.179263586dup	-
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)	8878	SQSTM1	Uncertain significance	-1	RCV001887375;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263585	179263585	179263585	-
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)	8878	SQSTM1	Uncertain significance	-1	RCV003021897;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263585	179263585	NC_000005.9:g.179263585C>T	-
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)	8878	SQSTM1	Uncertain significance	rs199854262	RCV001056050\|RCV001151734;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080\|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	5	179263586	179263586	5:g.179263586C>T	-
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439_Leu440=)	8878	SQSTM1	Likely benign	-1	RCV003086100;	N	MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080; MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872	5	179263587	179263587	NC_000005.9:g.179263587G>A	-
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439_Leu440=)	8878	SQSTM1	Likely benign	-1	RCV002636252;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263587	179263587	NC_000005.9:g.179263587G>C	-
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=)	8878	SQSTM1	Likely benign	-1	RCV002210284;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263590	179263590	179263590	-
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=)	8878	SQSTM1	Likely benign	-1	RCV001457375;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263592	179263592	179263592	-
NM_003900.5(SQSTM1):c.2_4del (p.Ter441=)	8878	SQSTM1	Uncertain significance	-1	RCV002023522;	N	MONDO:MONDO:0007105,MedGen:C3888102,OMIM:105550, Orphanet:275872; MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080	5	179263593	179263595	179263592	-

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