MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Nephrotic Syndrome (D009404)
Parent Node: Pupil Disorders (D011681)
..Starting node ..Pierson syndrome (C537185)
Child Nodes:
Sister Nodes:
..Anisocoria (D015875)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia pupillae (C536185)
..McPherson Robertson Cammarano syndrome (C538161)
..Microcoria, congenital (C537550)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Miosis (D015877) 5
..Mydriasis (D015878) 1
..Pierson syndrome (C537185)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Tonic Pupil (D015845) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9851

Name:

Pierson syndrome

Definition:

Alternative IDs:

DO:DOID:0060852|OMIM:609049

ParentIDs:

MESH:D000015|MESH:D005124|MESH:D009404|MESH:D011681

TreeNumbers:

C10.597.690/C537185 |C11.250/C537185 |C11.710/C537185 |C12.777.419.630.643/C537185 |C13.351.968.419.630.643/C537185 |C16.131.077/C537185 |C16.131.384/C537185 |C23.888.592.708/C537185

Synonyms:

Microcoria and congenital nephrotic syndrome |Microcoria-Congenital Nephrotic Syndrome |Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome

Slim Mappings:

Reference:

MedGen: C537185
MeSH: C537185
OMIM: 609049;
MSeqDR :
Genes: LAMB2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0001284	Areflexia
4	HP:0000618	Blindness
5	HP:0001967	Diffuse mesangial sclerosis
6	HP:0000969	Edema
7	HP:0001290	Generalized hypotonia
8	HP:0007774	Hypoplasia of the ciliary body
9	HP:0007676	Hypoplasia of the iris
10	HP:0003075	Hypoproteinemia
11	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
12	HP:0000100	Nephrotic syndrome NAMDC: Nephrotic syndrome	Neonatal onset
13	HP:0011502	Posterior lenticonus
14	HP:0000093	Proteinuria
15	HP:0003774	Stage 5 chronic kidney disease	Infantile onset

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000003.12:g.(?_49121216)_(49533209_?)del	-1	covers 13 genes, none of which curated to show dos	Pathogenic	-1	RCV001033498\|RCV001384888;	N	MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818, Orphanet:280333\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Or	3	49158649	49570642	-1	-
NM_002292.4(LAMB2):c.*92A>G	3913	LAMB2	Uncertain significance	rs886058670	RCV000300711\|RCV000366994\|RCV002504157;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158567	49158567	NC_000003.11:g.49158567T>C	ClinGen:CA10616322	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5385C>T (p.Asn1795_Thr1796=)	3913	LAMB2	Likely benign	-1	RCV002629607;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158671	49158671	NC_000003.11:g.49158671G>A	-
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)	3913	LAMB2	Uncertain significance	rs11550620	RCV000513389\|RCV000553199\|RCV001335016\|RCV002524965;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49158677	49158677	3:g.49158677G>C	ClinGen:CA2393543	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5355A>G (p.Gln1785_Ala1786=)	3913	LAMB2	Likely benign	-1	RCV002594661;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158701	49158701	NC_000003.11:g.49158701T>C	-
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe)	3913	LAMB2	Uncertain significance	rs2045219198	RCV001147932\|RCV001147933;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158706	49158706	3:g.49158706G>A	-
NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=)	3913	LAMB2	Likely benign	-1	RCV001406557;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158710	49158710	49158710	-
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys)	3913	LAMB2	Uncertain significance	rs2045220448	RCV001305080;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158727	49158727	49158727	-
NM_002292.4(LAMB2):c.5301G>A (p.Glu1767_Ser1768=)	3913	LAMB2	Likely benign	-1	RCV002750184;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158755	49158755	NC_000003.11:g.49158755C>T	-
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr)	3913	LAMB2	Benign/Likely benign	rs74951356	RCV000253175\|RCV000313486\|RCV000404994\|RCV000545161\|RCV001589254\|RCV002294130;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49158763	49158763	NC_000003.11:g.49158763C>T	ClinGen:CA2393553	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs781092208	RCV000268661\|RCV000370453\|RCV001465357;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158770	49158770	NC_000003.11:g.49158770A>G	ClinGen:CA2393554	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=)	3913	LAMB2	Likely benign	-1	RCV001872549;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158782	49158782	49158782	-
NM_002292.4(LAMB2):c.5261-7T>C	3913	LAMB2	Likely benign	-1	RCV002082948;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158802	49158802	49158802	-
NM_002292.4(LAMB2):c.5261-8C>T	3913	LAMB2	Likely benign	-1	RCV002098067;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158803	49158803	49158803	-
NM_002292.4(LAMB2):c.5260+13G>A	3913	LAMB2	Likely benign	-1	RCV002110763;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158853	49158853	49158853	-
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)	3913	LAMB2	Pathogenic	rs1560063136	RCV000015630;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158867	49158868	NC_000003.11:g.49158868dup	OMIM:150325.0003
NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln)	3913	LAMB2	Uncertain significance	rs1575524600	RCV000809199;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158871	49158871	3:g.49158871A>T	-
NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=)	3913	LAMB2	Likely benign	-1	RCV002101135;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158882	49158882	49158882	-
NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly)	3913	LAMB2	Uncertain significance	rs777643155	RCV000532554;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158886	49158886	NC_000003.11:g.49158886T>C	ClinGen:CA2393578	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)	3913	LAMB2	Uncertain significance	rs142041381	RCV001149473\|RCV001149474\|RCV001322924\|RCV001355488;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49158893	49158893	3:g.49158893C>T	-
NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=)	3913	LAMB2	Likely benign	-1	RCV002192108;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158894	49158894	49158894	-
NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro)	3913	LAMB2	Uncertain significance	-1	RCV001925902;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158896	49158896	49158896	-
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val)	3913	LAMB2	Uncertain significance	rs139156815	RCV000552419\|RCV002530194;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49158913	49158913	3:g.49158913G>A	ClinGen:CA2393582	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala)	3913	LAMB2	Uncertain significance	-1	RCV001955447;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158916	49158916	49158916	-
NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=)	3913	LAMB2	Likely benign	-1	RCV002071839;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158921	49158921	49158921	-
NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del)	3913	LAMB2	Uncertain significance	-1	RCV003005876;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158933	49158938	NC_000003.11:g.49158937_49158942del	-
NM_002292.4(LAMB2):c.5187A>T (p.Ala1729_Arg1730=)	3913	LAMB2	Likely benign	-1	RCV003013145;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158939	49158939	NC_000003.11:g.49158939T>A	-
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val)	3913	LAMB2	Uncertain significance	rs2045242099	RCV001315809;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158940	49158940	49158940	-
NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=)	3913	LAMB2	Likely benign	-1	RCV002103333;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158951	49158951	49158951	-
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=)	3913	LAMB2	Benign/Likely benign	rs114485284	RCV000527194\|RCV000591753\|RCV001149475\|RCV001149476;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049	3	49158960	49158960	3:g.49158960T>C	ClinGen:CA2393589	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr)	3913	LAMB2	Uncertain significance	-1	RCV001901136;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158967	49158967	49158967	-
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His)	3913	LAMB2	Uncertain significance	rs1188203180	RCV001241764;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158970	49158970	3:g.49158970C>T	-
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys)	3913	LAMB2	Uncertain significance	rs201458234	RCV000555600;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158971	49158971	3:g.49158971G>A	ClinGen:CA2393590	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs139511264	RCV000878748\|RCV001149478\|RCV001149477;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158984	49158984	3:g.49158984C>T	-
NM_002292.4(LAMB2):c.5136G>A (p.Thr1712_Val1713=)	3913	LAMB2	Likely benign	-1	RCV002637532;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49158990	49158990	NC_000003.11:g.49158990C>T	-
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)	3913	LAMB2	Uncertain significance	rs752667133	RCV001056425;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49158991	49158991	3:g.49158991G>T	-
NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=)	3913	LAMB2	Likely benign	rs28612476	RCV000952325\|RCV002066318;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159011	49159011	3:g.49159011A>G	-
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs151292828	RCV000326104\|RCV000364497\|RCV000649522;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159017	49159017	NC_000003.11:g.49159017G>A	ClinGen:CA2393599	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His)	3913	LAMB2	Uncertain significance	-1	RCV001968122;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159018	49159018	49159018	-
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)	3913	LAMB2	Benign/Likely benign	rs150465100	RCV000527520\|RCV001145190\|RCV001145191\|RCV001288664;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49159156	49159156	3:g.49159156C>A	ClinGen:CA2393620	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)	3913	LAMB2	Likely benign	rs150465100	RCV000876069;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159156	49159156	3:g.49159156C>T	-
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)	3913	LAMB2	Uncertain significance	rs141473691	RCV000272339\|RCV000321246\|RCV000551379\|RCV001753812\|RCV002520156;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49159178	49159178	NC_000003.11:g.49159178G>A	ClinGen:CA2393624	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)	3913	LAMB2	Benign/Likely benign	rs199580679	RCV000286001\|RCV000516682\|RCV001029909\|RCV000969809;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49159190	49159190	NC_000003.11:g.49159190C>A	ClinGen:CA2393625	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs1575526216	RCV000820473\|RCV001816905;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN169374	3	49159190	49159191	NC_000003.11:g.49159190_49159191delinsAT	-
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)	3913	LAMB2	Benign/Likely benign	rs200747448	RCV000324723\|RCV000518603\|RCV000903269\|RCV001029908;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49159191	49159191	NC_000003.11:g.49159191C>T	ClinGen:CA2393626	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln)	3913	LAMB2	Uncertain significance	rs764128779	RCV000280251\|RCV000337761\|RCV000800481\|RCV002523447;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49159196	49159196	NC_000003.11:g.49159196C>T	ClinGen:CA2393629	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp)	3913	LAMB2	Uncertain significance	-1	RCV001906679;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159197	49159197	49159197	-
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=)	3913	LAMB2	Likely benign	rs143723352	RCV000907389;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159219	49159219	3:g.49159219G>A	-
NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=)	3913	LAMB2	Likely benign	-1	RCV002124535;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159230	49159230	49159230	-
NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln)	3913	LAMB2	Uncertain significance	-1	RCV002921998;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159235	49159235	NC_000003.11:g.49159235C>T	-
NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu)	3913	LAMB2	Uncertain significance	-1	RCV001975800;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159250	49159250	49159250	-
NM_002292.4(LAMB2):c.4965T>G (p.Ser1655_Ala1656=)	3913	LAMB2	Likely benign	-1	RCV003073923;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159252	49159252	NC_000003.11:g.49159252A>C	-
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro)	3913	LAMB2	Uncertain significance	rs200761921	RCV000534197;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159259	49159259	3:g.49159259A>G	ClinGen:CA2393645	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)	3913	LAMB2	Uncertain significance	rs1294654447	RCV001147148\|RCV001147149\|RCV002480542;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159263	49159263	3:g.49159263C>T	-
NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln)	3913	LAMB2	Likely benign	-1	RCV002116515\|RCV003070580;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49159265	49159265	49159265	-
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp)	3913	LAMB2	Uncertain significance	rs200165604	RCV001066146\|RCV002554483;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49159266	49159266	3:g.49159266G>A	-
NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp)	3913	LAMB2	Uncertain significance	-1	RCV001952325;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159274	49159274	49159274	-
NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val)	3913	LAMB2	Uncertain significance	-1	RCV003042849;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159274	49159274	NC_000003.11:g.49159274C>A	-
NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg)	3913	LAMB2	Benign	-1	RCV001523568;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159289	49159289	49159289	-
NM_002292.4(LAMB2):c.4924-11A>G	3913	LAMB2	Likely benign	-1	RCV002160934;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159304	49159304	49159304	-
NM_002292.4(LAMB2):c.4923+17A>G	3913	LAMB2	Benign/Likely benign	rs116836607	RCV000248404\|RCV001574178\|RCV002058108;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159360	49159360	NC_000003.11:g.49159360T>C	ClinGen:CA2393665	CN169374 not specified;
NM_002292.4(LAMB2):c.4923+2T>G	3913	LAMB2	Likely pathogenic	-1	RCV002664311;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159375	49159375	NC_000003.11:g.49159375A>C	-
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys)	3913	LAMB2	Uncertain significance	rs2045287048	RCV001314716;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159381	49159381	49159381	-
NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln)	3913	LAMB2	Uncertain significance	-1	RCV002953381;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159402	49159402	NC_000003.11:g.49159402C>T	-
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp)	3913	LAMB2	Uncertain significance	-1	RCV002004017;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159403	49159403	49159403	-
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr)	3913	LAMB2	Uncertain significance	rs144938183	RCV001339168;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159412	49159412	49159412	-
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr)	3913	LAMB2	Uncertain significance	-1	RCV001361382;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159418	49159418	49159418	-
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs148648480	RCV000243237\|RCV000292740\|RCV000398762\|RCV000876599;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49159422	49159422	3:g.49159422C>T	ClinGen:CA2393675	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro)	3913	LAMB2	Uncertain significance	rs752674803	RCV000526727;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159423	49159423	3:g.49159423C>G	ClinGen:CA352686980	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln)	3913	LAMB2	Uncertain significance	rs752674803	RCV000792322;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159423	49159423	3:g.49159423C>T	-
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn)	3913	LAMB2	Uncertain significance	rs763488594	RCV001323321;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159426	49159426	49159426	-
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)	3913	LAMB2	Likely benign	-1	RCV001419767;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159437	49159437	49159437	-
NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val)	3913	LAMB2	Uncertain significance	-1	RCV001959654;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159442	49159442	49159442	-
NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp)	3913	LAMB2	Uncertain significance	-1	RCV002007635;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159444	49159444	49159444	-
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=)	3913	LAMB2	Benign/Likely benign	-1	RCV001520235;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159452	49159452	49159452	-
NM_002292.4(LAMB2):c.4837G>A (p.Glu1613Lys)	3913	LAMB2	Uncertain significance	-1	RCV003031830;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159463	49159463	NC_000003.11:g.49159463C>T	-
NM_002292.4(LAMB2):c.4830A>T (p.Ala1610_Leu1611=)	3913	LAMB2	Likely benign	-1	RCV003011923;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159470	49159470	NC_000003.11:g.49159470T>A	-
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys)	3913	LAMB2	Uncertain significance	rs1560066776	RCV000722533\|RCV001862120;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159478	49159479	NC_000003.11:g.49159478_49159479delinsTC	-
NM_002292.4(LAMB2):c.4816A>G (p.Thr1606Ala)	3913	LAMB2	Uncertain significance	-1	RCV002814768;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159484	49159484	NC_000003.11:g.49159484T>C	-
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)	3913	LAMB2	Pathogenic	-1	RCV003034871;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159493	49159494	NC_000003.11:g.49159494_49159495del	-
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs)	3913	LAMB2	Pathogenic	rs769399002	RCV000015637\|RCV001851879;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159496	49159496	NC_000003.11:g.49159496del	ClinGen:CA212957,OMIM:150325.0010	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4802A>T (p.Lys1601Ile)	3913	LAMB2	Uncertain significance	-1	RCV002592439;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159498	49159498	NC_000003.11:g.49159498T>A	-
NM_002292.4(LAMB2):c.4782-15_4782-10del	3913	LAMB2	Likely benign	rs1575527834	RCV000979879\|RCV001491946;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159528	49159533	3:g.49159528_49159533del	-
NM_002292.4(LAMB2):c.4781+15C>T	3913	LAMB2	Likely benign	-1	RCV002926805;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159581	49159581	NC_000003.11:g.49159581G>A	-
NM_002292.4(LAMB2):c.4781+8C>T	3913	LAMB2	Likely benign	-1	RCV002131379;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159588	49159588	49159588	-
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu)	3913	LAMB2	Uncertain significance	rs1011098102	RCV001242684;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159599	49159599	3:g.49159599G>T	-
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)	3913	LAMB2	Benign/Likely benign	rs61729458	RCV000251444\|RCV000350028\|RCV000407807\|RCV000712179\|RCV001082801\|RCV002294129;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C32801	3	49159603	49159603	NC_000003.11:g.49159603G>A	ClinGen:CA2393708	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)	3913	LAMB2	Pathogenic	rs1553776921	RCV000537956;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159603	49159604	3:g.49159603_49159604insC	ClinGen:CA658657298	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4773G>A (p.Arg1591=)	3913	LAMB2	Likely benign	-1	RCV001405833;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159604	49159604	49159604	-
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter)	3913	LAMB2	Pathogenic	rs775456607	RCV000817580;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159615	49159615	3:g.49159615G>A	-
NM_002292.4(LAMB2):c.4753C>A (p.Gln1585Lys)	3913	LAMB2	Uncertain significance	-1	RCV002998962;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159624	49159624	NC_000003.11:g.49159624G>T	-
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly)	3913	LAMB2	Uncertain significance	rs768491835	RCV000557240;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159626	49159626	3:g.49159626T>C	ClinGen:CA2393715	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4749C>T (p.Ala1583=)	3913	LAMB2	Likely benign	-1	RCV002130346;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159628	49159628	49159628	-
NM_002292.4(LAMB2):c.4744C>T (p.Arg1582Cys)	3913	LAMB2	Uncertain significance	-1	RCV002993652;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159633	49159633	NC_000003.11:g.49159633G>A	-
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His)	3913	LAMB2	Uncertain significance	-1	RCV001363574;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159635	49159635	49159635	-
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys)	3913	LAMB2	Uncertain significance	rs374187759	RCV001309637;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159636	49159636	49159636	-
NM_002292.4(LAMB2):c.4729G>A (p.Val1577Ile)	3913	LAMB2	Uncertain significance	-1	RCV003052509;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159648	49159648	NC_000003.11:g.49159648C>T	-
NM_002292.4(LAMB2):c.4728T>C (p.Thr1576_Val1577=)	3913	LAMB2	Likely benign	-1	RCV003050572;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159649	49159649	NC_000003.11:g.49159649A>G	-
NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys)	3913	LAMB2	Uncertain significance	-1	RCV001945105\|RCV002556370;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49159654	49159654	49159654	-
NM_002292.4(LAMB2):c.4722A>G (p.Ala1574=)	3913	LAMB2	Likely benign	rs371619654	RCV000922379\|RCV002065975;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159655	49159655	3:g.49159655T>C	-
NM_002292.4(LAMB2):c.4713G>A (p.Ala1571_Ile1572=)	3913	LAMB2	Likely benign	-1	RCV002971882;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159664	49159664	NC_000003.11:g.49159664C>T	-
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val)	3913	LAMB2	Uncertain significance	rs371490301	RCV001228507;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159665	49159665	3:g.49159665G>A	-
NM_002292.4(LAMB2):c.4707G>A (p.Val1569=)	3913	LAMB2	Likely benign	rs1575528672	RCV000940774\|RCV001452967;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159670	49159670	3:g.49159670C>T	-
NM_002292.4(LAMB2):c.4702G>A (p.Asp1568Asn)	3913	LAMB2	Uncertain significance	-1	RCV002949189;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159675	49159675	NC_000003.11:g.49159675C>T	-
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile)	3913	LAMB2	Uncertain significance	rs373872524	RCV000799654;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159683	49159683	3:g.49159683C>A	-
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp)	3913	LAMB2	Uncertain significance	rs780366815	RCV000814057;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159687	49159687	3:g.49159687G>A	-
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=)	3913	LAMB2	Uncertain significance	rs2045317445	RCV001148044\|RCV001148043;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159688	49159688	3:g.49159688G>A	-
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr)	3913	LAMB2	Uncertain significance	rs768495334	RCV001349492;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159699	49159699	49159699	-
NM_002292.4(LAMB2):c.4676T>C (p.Ile1559Thr)	3913	LAMB2	Uncertain significance	-1	RCV002000259;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159701	49159701	49159701	-
NM_002292.4(LAMB2):c.4674G>A (p.Ala1558=)	3913	LAMB2	Likely benign	-1	RCV002095108;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159703	49159703	49159703	-
NM_002292.4(LAMB2):c.4673C>T (p.Ala1558Val)	3913	LAMB2	Uncertain significance	-1	RCV002918617;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159704	49159704	NC_000003.11:g.49159704G>A	-
NM_002292.4(LAMB2):c.4668G>A (p.Ala1556=)	3913	LAMB2	Likely benign	rs766074746	RCV000952344\|RCV002066320;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159709	49159709	3:g.49159709C>T	-
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val)	3913	LAMB2	Likely benign	-1	RCV001733588\|RCV002077179;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159710	49159710	49159710	-
NM_002292.4(LAMB2):c.4666G>A (p.Ala1556Thr)	3913	LAMB2	Uncertain significance	-1	RCV003062969;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159711	49159711	NC_000003.11:g.49159711C>T	-
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser)	3913	LAMB2	Uncertain significance	rs764494090	RCV000649517;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159732	49159732	NC_000003.11:g.49159732C>A	ClinGen:CA2393741	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4626G>A (p.Glu1542=)	3913	LAMB2	Likely benign	-1	RCV002080899;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159751	49159751	49159751	-
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile)	3913	LAMB2	Uncertain significance	rs781065313	RCV001216011;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159764	49159764	3:g.49159764G>A	-
NM_002292.4(LAMB2):c.4590T>C (p.Pro1530=)	3913	LAMB2	Likely benign	-1	RCV002199368;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49159787	49159787	49159787	-
NM_002292.4(LAMB2):c.4574-6C>T	3913	LAMB2	Likely benign	-1	RCV003059686;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159809	49159809	NC_000003.11:g.49159809G>A	-
NM_002292.4(LAMB2):c.4574-16del	3913	LAMB2	Likely benign	-1	RCV002602513;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49159819	49159819	NC_000003.11:g.49159820del	-
NM_002292.4(LAMB2):c.4573+8T>C	3913	LAMB2	Likely benign	-1	RCV003115476;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160129	49160129	NC_000003.11:g.49160129A>G	-
NM_002292.4(LAMB2):c.4573+6C>T	3913	LAMB2	Uncertain significance	-1	RCV003047720;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160131	49160131	NC_000003.11:g.49160131G>A	-
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg)	3913	LAMB2	Uncertain significance	rs148069401	RCV000536067\|RCV002530193;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49160151	49160151	NC_000003.11:g.49160151T>C	ClinGen:CA2393774	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4553G>A (p.Ser1518Asn)	3913	LAMB2	Uncertain significance	-1	RCV002922695;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160157	49160157	NC_000003.11:g.49160157C>T	-
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)	3913	LAMB2	Pathogenic	rs2045352880	RCV001044619;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160158	49160200	3:g.49160158_49160200del	-
NM_002292.4(LAMB2):c.4524C>G (p.Ala1508_Asn1509=)	3913	LAMB2	Likely benign	-1	RCV002876245;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160186	49160186	NC_000003.11:g.49160186G>C	-
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)	3913	LAMB2	Uncertain significance	rs1277967384	RCV001051003;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160194	49160194	3:g.49160194C>T	-
NM_002292.4(LAMB2):c.4498G>C (p.Ala1500Pro)	3913	LAMB2	Uncertain significance	-1	RCV001875368;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160212	49160212	49160212	-
NM_002292.4(LAMB2):c.4488C>A (p.Asp1496Glu)	3913	LAMB2	Uncertain significance	-1	RCV002884972;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160222	49160222	NC_000003.11:g.49160222G>T	-
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=)	3913	LAMB2	Uncertain significance	rs199894011	RCV001148045\|RCV001148046;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160228	49160228	3:g.49160228G>A	-
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln)	3913	LAMB2	Uncertain significance	-1	RCV001989006\|RCV002592658;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49160241	49160241	49160241	-
NM_002292.4(LAMB2):c.4460C>T (p.Ala1487Val)	3913	LAMB2	Uncertain significance	-1	RCV002017000;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160250	49160250	49160250	-
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser)	3913	LAMB2	Uncertain significance	rs917006966	RCV001300978;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160251	49160251	49160251	-
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp)	3913	LAMB2	Uncertain significance	rs755963903	RCV000820493\|RCV002537473;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49160266	49160266	3:g.49160266G>A	-
NM_002292.4(LAMB2):c.4442G>A (p.Arg1481His)	3913	LAMB2	Uncertain significance	-1	RCV002577589;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160268	49160268	NC_000003.11:g.49160268C>T	-
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala)	3913	LAMB2	Uncertain significance	-1	RCV001916916;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160272	49160272	49160272	-
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=)	3913	LAMB2	Likely benign	-1	RCV001402389;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160285	49160285	49160285	-
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr)	3913	LAMB2	Uncertain significance	rs1377720264	RCV000798371;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160295	49160295	3:g.49160295C>G	-
NM_002292.4(LAMB2):c.4398A>G (p.Ala1466=)	3913	LAMB2	Likely benign	-1	RCV001431716;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160312	49160312	49160312	-
NM_002292.4(LAMB2):c.4394G>A (p.Arg1465Gln)	3913	LAMB2	Uncertain significance	-1	RCV002890684;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160316	49160316	NC_000003.11:g.49160316C>T	-
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp)	3913	LAMB2	Uncertain significance	rs771487133	RCV000799293;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160317	49160317	3:g.49160317G>A	-
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln)	3913	LAMB2	Benign/Likely benign	rs148818522	RCV000872737\|RCV001148047\|RCV001148048\|RCV001707719\|RCV002294342;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|M	3	49160340	49160340	3:g.49160340C>T	ClinGen:CA2393803	CN169374 not specified;
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs151037751	RCV000309451\|RCV000407789\|RCV001476396;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160341	49160341	NC_000003.11:g.49160341G>A	ClinGen:CA2393804	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val)	3913	LAMB2	Uncertain significance	rs1040319445	RCV001314777;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160343	49160343	49160343	-
NM_002292.4(LAMB2):c.4364G>C (p.Arg1455Pro)	3913	LAMB2	Uncertain significance	-1	RCV002943573;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160346	49160346	NC_000003.11:g.49160346C>G	-
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp)	3913	LAMB2	Uncertain significance	rs901971113	RCV000807095;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160347	49160347	3:g.49160347G>A	-
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly)	3913	LAMB2	Uncertain significance	-1	RCV001366004;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160361	49160361	49160361	-
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=)	3913	LAMB2	Likely benign	rs202083663	RCV000649524;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160363	49160363	3:g.49160363T>G	ClinGen:CA2393806	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4338G>A (p.Ala1446=)	3913	LAMB2	Likely benign	-1	RCV001502251;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160372	49160372	49160372	-
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val)	3913	LAMB2	Uncertain significance	rs757984116	RCV001344743;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160373	49160373	49160373	-
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser)	3913	LAMB2	Uncertain significance	rs1327659310	RCV001345620;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160382	49160382	49160382	-
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg)	3913	LAMB2	Uncertain significance	-1	RCV002012240;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160387	49160387	49160387	-
NM_002292.4(LAMB2):c.4308C>T (p.Arg1436=)	3913	LAMB2	Likely benign	-1	RCV002215990;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160402	49160402	49160402	-
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His)	3913	LAMB2	Uncertain significance	rs377526198	RCV001195701\|RCV001859179;	N	Human Phenotype Ontology:HP:0000099,MONDO:MONDO:0002462,MedGen:C0017658\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160403	49160403	3:g.49160403C>T	-
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys)	3913	LAMB2	Uncertain significance	-1	RCV001940109;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160404	49160404	49160404	-
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=)	3913	LAMB2	Likely benign	-1	RCV002157007;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160405	49160405	49160405	-
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)	3913	LAMB2	Uncertain significance	rs140968382	RCV000696350\|RCV003140103;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN517202	3	49160406	49160406	3:g.49160406G>A	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4304C>G (p.Pro1435Arg)	3913	LAMB2	Uncertain significance	-1	RCV002574290;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160406	49160406	NC_000003.11:g.49160406G>C	-
NM_002292.4(LAMB2):c.4299G>A (p.Gly1433=)	3913	LAMB2	Likely benign	rs1165303917	RCV000978883\|RCV001399820;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160411	49160411	3:g.49160411C>T	-
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)	3913	LAMB2	Likely pathogenic	rs2045366127	RCV001251186;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160433	49160434	3:g.49160433_49160434insC	-
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala)	3913	LAMB2	Uncertain significance	rs141317511	RCV000689520;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160436	49160436	3:g.49160436C>G	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=)	3913	LAMB2	Likely benign	rs149536828	RCV000877468;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160453	49160453	3:g.49160453A>G	-
NM_002292.4(LAMB2):c.4227G>A (p.Val1409=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs766376770	RCV000591944\|RCV002062104;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160483	49160483	3:g.49160483C>T	ClinGen:CA2393828	CN169374 not specified;
NM_002292.4(LAMB2):c.4225-5G>C	3913	LAMB2	Likely benign	rs372161777	RCV000876889;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160490	49160490	3:g.49160490C>G	-
NM_002292.4(LAMB2):c.4225-7del	3913	LAMB2	Likely benign	-1	RCV001902752;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160492	49160492	49160491	-
NM_002292.4(LAMB2):c.4225-17T>C	3913	LAMB2	Likely benign	-1	RCV002943308;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160502	49160502	NC_000003.11:g.49160502A>G	-
NM_002292.4(LAMB2):c.4224+19G>A	3913	LAMB2	Benign	rs114913744	RCV000249529\|RCV001707587\|RCV002058107;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160546	49160546	3:g.49160546C>T	ClinGen:CA2393845	CN169374 not specified;
NM_002292.4(LAMB2):c.4224+19G>C	3913	LAMB2	Likely benign	-1	RCV002217808;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160546	49160546	49160546	-
NM_002292.4(LAMB2):c.4224+8T>C	3913	LAMB2	Likely benign	-1	RCV002168932;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160557	49160557	49160557	-
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=)	3913	LAMB2	Benign/Likely benign	rs143974640	RCV000265314\|RCV000366469\|RCV000559878\|RCV001562465;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49160567	49160567	NC_000003.11:g.49160567G>A	ClinGen:CA2393847	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4212C>A (p.Asp1404Glu)	3913	LAMB2	Uncertain significance	-1	RCV003083669;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160577	49160577	NC_000003.11:g.49160577G>T	-
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs)	3913	LAMB2	Pathogenic	-1	RCV001930087;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160588	49160588	49160587	-
NM_002292.4(LAMB2):c.4200G>A (p.Leu1400_Ser1401=)	3913	LAMB2	Likely benign	-1	RCV003083556;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160589	49160589	NC_000003.11:g.49160589C>T	-
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)	3913	LAMB2	Pathogenic	-1	RCV002651705;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160590	49160591	NC_000003.11:g.49160590_49160591del	-
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln)	3913	LAMB2	Benign/Likely benign	rs146522641	RCV000542773\|RCV001090579\|RCV001149593\|RCV001149594;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49160626	49160626	NC_000003.11:g.49160626C>T	ClinGen:CA2393857	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser)	3913	LAMB2	Uncertain significance	rs769093652	RCV001321441;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160632	49160632	49160632	-
NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu)	3913	LAMB2	Uncertain significance	-1	RCV001974745;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160639	49160639	49160639	-
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)	3913	LAMB2	Uncertain significance	rs150064487	RCV001149596\|RCV001149595\|RCV002032384\|RCV001580281;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|H	3	49160640	49160640	3:g.49160640G>T	-
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg)	3913	LAMB2	Uncertain significance	rs754983373	RCV000808658\|RCV001149597\|RCV001149598\|RCV001759554;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49160641	49160641	3:g.49160641T>C	-
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)	3913	LAMB2	Uncertain significance	rs267607207	RCV000530745\|RCV001145297\|RCV001145298;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160649	49160649	3:g.49160649G>T	ClinGen:CA074242,UniProtKB:P55268#VAR_031972,OMIM:150325.0007,ClinVar:14535	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4139A>G (p.Asn1380Ser)	3913	LAMB2	Uncertain significance	-1	RCV002019620;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160650	49160650	49160650	-
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=)	3913	LAMB2	Uncertain significance	rs774234171	RCV000304046\|RCV000361200;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160655	49160655	NC_000003.11:g.49160655G>A	ClinGen:CA2393865	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4133A>G (p.Asp1378Gly)	3913	LAMB2	Uncertain significance	-1	RCV002937432;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160656	49160656	NC_000003.11:g.49160656T>C	-
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)	3913	LAMB2	Uncertain significance	rs112933248	RCV000559112\|RCV001145300\|RCV001145299\|RCV001764596;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49160671	49160671	NC_000003.11:g.49160671T>C	ClinGen:CA2393867	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4100G>C (p.Arg1367Pro)	3913	LAMB2	Uncertain significance	-1	RCV001950149;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160689	49160689	49160689	-
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)	3913	LAMB2	Uncertain significance	-1	RCV001893885;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160692	49160692	49160692	-
NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln)	3913	LAMB2	Uncertain significance	-1	RCV001883784;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160695	49160695	49160695	-
NM_002292.4(LAMB2):c.4093C>T (p.Arg1365Trp)	3913	LAMB2	Uncertain significance	-1	RCV002995548;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160696	49160696	NC_000003.11:g.49160696G>A	-
NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly)	3913	LAMB2	Uncertain significance	-1	RCV002016900;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160714	49160714	49160714	-
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=)	3913	LAMB2	Likely benign	-1	RCV001431816;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160718	49160718	49160718	-
NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu)	3913	LAMB2	Uncertain significance	-1	RCV002031209\|RCV002294503;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|Human Phenotype Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	3	49160719	49160719	49160719	-
NM_002292.4(LAMB2):c.4067G>A (p.Ser1356Asn)	3913	LAMB2	Uncertain significance	-1	RCV001865014;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160722	49160722	49160722	-
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile)	3913	LAMB2	Uncertain significance	-1	RCV001943731;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160729	49160729	49160729	-
NM_002292.4(LAMB2):c.4044T>C (p.Asn1348_Thr1349=)	3913	LAMB2	Likely benign	-1	RCV002579356;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160745	49160745	NC_000003.11:g.49160745A>G	-
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser)	3913	LAMB2	Uncertain significance	rs771215576	RCV000259456\|RCV000316800\|RCV002488754\|RCV002523448;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49160746	49160746	NC_000003.11:g.49160746T>C	ClinGen:CA2393882	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4039G>A (p.Ala1347Thr)	3913	LAMB2	Uncertain significance	-1	RCV001999657;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160750	49160750	49160750	-
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His)	3913	LAMB2	Uncertain significance	-1	RCV001967472;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160752	49160752	49160752	-
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His)	3913	LAMB2	Benign	rs75073433	RCV000244775\|RCV000262930\|RCV000373800\|RCV000546571;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49160755	49160755	3:g.49160755C>T	ClinGen:CA2393885	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)	3913	LAMB2	Uncertain significance	-1	RCV002042035;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160756	49160756	49160756	-
NM_002292.4(LAMB2):c.4013G>A (p.Ser1338Asn)	3913	LAMB2	Uncertain significance	-1	RCV002296352;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160776	49160776	49160776	-
NM_002292.4(LAMB2):c.4011T>C (p.His1337=)	3913	LAMB2	Uncertain significance	rs886058671	RCV000329761\|RCV000386874;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160778	49160778	NC_000003.11:g.49160778A>G	ClinGen:CA10616330	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val)	3913	LAMB2	Uncertain significance	rs886058672	RCV000294911\|RCV000352016;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160782	49160782	NC_000003.11:g.49160782G>A	ClinGen:CA10616334	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly)	3913	LAMB2	Uncertain significance	rs886058672	RCV000810231;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160782	49160782	3:g.49160782G>C	-
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg)	3913	LAMB2	Uncertain significance	rs775944984	RCV001312852;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160785	49160785	49160785	-
NM_002292.4(LAMB2):c.4001G>C (p.Arg1334Pro)	3913	LAMB2	Uncertain significance	rs144783830	RCV000762115\|RCV001855948;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160788	49160788	NC_000003.11:g.49160788C>G	-
NM_002292.4(LAMB2):c.4001G>A (p.Arg1334Gln)	3913	LAMB2	Uncertain significance	-1	RCV001970445;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160788	49160788	49160788	-
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn)	3913	LAMB2	Uncertain significance	rs980152482	RCV001147245\|RCV001147246;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160794	49160794	3:g.49160794C>T	-
NM_002292.4(LAMB2):c.3989A>G (p.Tyr1330Cys)	3913	LAMB2	Uncertain significance	-1	RCV002598130;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160800	49160800	NC_000003.11:g.49160800T>C	-
NM_002292.4(LAMB2):c.3983-10C>T	3913	LAMB2	Likely benign	-1	RCV002111743;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160816	49160816	49160816	-
NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp)	3913	LAMB2	Uncertain significance	-1	RCV001980969;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160889	49160889	49160889	-
NM_002292.4(LAMB2):c.3935G>A (p.Arg1312Gln)	3913	LAMB2	Uncertain significance	-1	RCV002904289;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160927	49160927	NC_000003.11:g.49160927C>T	-
NM_002292.4(LAMB2):c.3930A>G (p.Thr1310_Leu1311=)	3913	LAMB2	Likely benign	-1	RCV002644078;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160932	49160932	NC_000003.11:g.49160932T>C	-
NM_002292.4(LAMB2):c.3928A>C (p.Thr1310Pro)	3913	LAMB2	Uncertain significance	-1	RCV001898686;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160934	49160934	49160934	-
NM_002292.4(LAMB2):c.3927C>G (p.Leu1309_Thr1310=)	3913	LAMB2	Likely benign	-1	RCV002755126;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160935	49160935	NC_000003.11:g.49160935G>C	-
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs)	3913	LAMB2	Pathogenic	-1	RCV001888455;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160970	49160980	49160969	-
NM_002292.4(LAMB2):c.3887C>T (p.Ala1296Val)	3913	LAMB2	Uncertain significance	-1	RCV001952747;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160975	49160975	49160975	-
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile)	3913	LAMB2	Likely benign	rs148246465	RCV000529393\|RCV001148141\|RCV001148142;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160987	49160987	3:g.49160987T>A	ClinGen:CA2393920	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser)	3913	LAMB2	Uncertain significance	rs148246465	RCV001038457;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49160987	49160987	3:g.49160987T>C	-
NM_002292.4(LAMB2):c.3870C>T (p.Asn1290=)	3913	LAMB2	Likely benign	-1	RCV002208912;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49160992	49160992	49160992	-
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)	3913	LAMB2	Benign/Likely benign	rs34967349	RCV000554943\|RCV001080493\|RCV001148144\|RCV001148143\|RCV001821592;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49161004	49161004	NC_000003.11:g.49161004C>A	ClinGen:CA2393922	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3856G>A (p.Val1286Met)	3913	LAMB2	Uncertain significance	-1	RCV002918126;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161006	49161006	NC_000003.11:g.49161006C>T	-
NM_002292.4(LAMB2):c.3842C>T (p.Ala1281Val)	3913	LAMB2	Uncertain significance	-1	RCV003061095;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161020	49161020	NC_000003.11:g.49161020G>A	-
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys)	3913	LAMB2	Uncertain significance	rs532092193	RCV001297241;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161024	49161024	49161024	-
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=)	3913	LAMB2	Uncertain significance	rs775950352	RCV001148145\|RCV001148146;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161025	49161025	3:g.49161025G>A	-
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=)	3913	LAMB2	Likely benign	-1	RCV002148381;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161036	49161036	49161036	-
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys)	3913	LAMB2	Uncertain significance	rs1560071889	RCV000712178\|RCV002499290;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161051	49161051	NC_000003.11:g.49161051C>T	-
NM_002292.4(LAMB2):c.3810G>A (p.Gly1270_Glu1271=)	3913	LAMB2	Likely benign	-1	RCV003121981;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161052	49161052	NC_000003.11:g.49161052C>T	-
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr)	3913	LAMB2	Uncertain significance	rs750462831	RCV001053584;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161056	49161056	3:g.49161056A>G	-
NM_002292.4(LAMB2):c.3800G>A (p.Arg1267His)	3913	LAMB2	Uncertain significance	-1	RCV002635317;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161062	49161062	NC_000003.11:g.49161062C>T	-
NM_002292.4(LAMB2):c.3798-14C>G	3913	LAMB2	Likely benign	-1	RCV003025659;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161078	49161078	NC_000003.11:g.49161078G>C	-
NM_002292.4(LAMB2):c.3798-16C>A	3913	LAMB2	Likely benign	-1	RCV002200087;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161080	49161080	49161080	-
NM_002292.4(LAMB2):c.3798-16del	3913	LAMB2	Benign/Likely benign	-1	RCV002117768;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161080	49161080	49161079	-
NM_002292.4(LAMB2):c.3798-17C>G	3913	LAMB2	Likely benign	-1	RCV002088620;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161081	49161081	49161081	-
NM_002292.4(LAMB2):c.3798-18C>A	3913	LAMB2	Likely benign	-1	RCV002167298;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161082	49161082	49161082	-
NM_002292.4(LAMB2):c.3797+5G>A	3913	LAMB2	Uncertain significance	rs150213016	RCV000542271;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161156	49161156	NC_000003.11:g.49161156C>T	ClinGen:CA2393960	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3797+4C>T	3913	LAMB2	Conflicting interpretations of pathogenicity	-1	RCV001484652\|RCV002294463;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|Human Phenotype Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	3	49161157	49161157	49161157	-
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val)	3913	LAMB2	Uncertain significance	rs771785818	RCV000810768\|RCV001330711;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161186	49161186	3:g.49161186G>C	-
NM_002292.4(LAMB2):c.3764C>G (p.Thr1255Ser)	3913	LAMB2	Uncertain significance	-1	RCV002636889;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161194	49161194	NC_000003.11:g.49161194G>C	-
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala)	3913	LAMB2	Uncertain significance	rs1180166011	RCV000529689;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161195	49161195	NC_000003.11:g.49161195T>C	ClinGen:CA352704371	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr)	3913	LAMB2	Uncertain significance	rs141062242	RCV000554100\|RCV002530192;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49161201	49161201	NC_000003.11:g.49161201C>T	ClinGen:CA2393971	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3756C>T (p.Ala1252=)	3913	LAMB2	Likely benign	-1	RCV001461670;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161202	49161202	49161202	-
NM_002292.4(LAMB2):c.3747C>T (p.Asn1249=)	3913	LAMB2	Likely benign	-1	RCV002122431;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161211	49161211	49161211	-
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg)	3913	LAMB2	Uncertain significance	rs755874006	RCV000811571;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161231	49161231	3:g.49161231C>G	-
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val)	3913	LAMB2	Uncertain significance	-1	RCV002008690;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161240	49161240	49161240	-
NM_002292.4(LAMB2):c.3708G>T (p.Glu1236Asp)	3913	LAMB2	Uncertain significance	-1	RCV001881040;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161250	49161250	49161250	-
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)	3913	LAMB2	Pathogenic	-1	RCV002862368;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161261	49161268	NC_000003.11:g.49161261_49161268del	-
NM_002292.4(LAMB2):c.3690C>T (p.Ser1230=)	3913	LAMB2	Likely benign	-1	RCV002075686;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161268	49161268	49161268	-
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp)	3913	LAMB2	Uncertain significance	-1	RCV001895813\|RCV003130575;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49161284	49161284	49161284	-
NM_002292.4(LAMB2):c.3666T>G (p.Gly1222_Val1223=)	3913	LAMB2	Uncertain significance	-1	RCV002843594;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161292	49161292	NC_000003.11:g.49161292A>C	-
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg)	3913	LAMB2	Uncertain significance	rs748563846	RCV000289091\|RCV000381026\|RCV002520157;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161294	49161294	NC_000003.11:g.49161294C>G	ClinGen:CA2393987	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met)	3913	LAMB2	Uncertain significance	-1	RCV001907588\|RCV002548725;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49161296	49161296	49161296	-
NM_002292.4(LAMB2):c.3659A>T (p.Gln1220Leu)	3913	LAMB2	Uncertain significance	-1	RCV002002136;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161299	49161299	49161299	-
NM_002292.4(LAMB2):c.3654G>A (p.Leu1218_Gln1219=)	3913	LAMB2	Likely benign	-1	RCV002755608;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161304	49161304	NC_000003.11:g.49161304C>T	-
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs13082063	RCV000649528\|RCV001149696\|RCV001149695\|RCV001662706\|RCV002294362;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49161313	49161313	3:g.49161313C>T	ClinGen:CA2393992	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly)	3913	LAMB2	Uncertain significance	rs140456179	RCV000346336\|RCV000390950\|RCV001861219;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161314	49161314	NC_000003.11:g.49161314G>C	ClinGen:CA2393993	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3642G>C (p.Arg1214_Ala1215=)	3913	LAMB2	Likely benign	-1	RCV002996796;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161316	49161316	NC_000003.11:g.49161316C>G	-
NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln)	3913	LAMB2	Uncertain significance	-1	RCV001963351;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161317	49161317	49161317	-
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs760524944	RCV000700593\|RCV002533593;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49161318	49161318	NC_000003.11:g.49161318G>A	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)	3913	LAMB2	Uncertain significance	-1	RCV002294617\|RCV003101700;	N	Human Phenotype Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161330	49161330	49161330	-
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His)	3913	LAMB2	Uncertain significance	rs1447799031	RCV001228155;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161338	49161338	3:g.49161338C>T	-
NM_002292.4(LAMB2):c.3619C>T (p.Arg1207Cys)	3913	LAMB2	Uncertain significance	-1	RCV001888965;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161339	49161339	49161339	-
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val)	3913	LAMB2	Uncertain significance	-1	RCV001911733;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161341	49161341	49161341	-
NM_002292.4(LAMB2):c.3613G>A (p.Ala1205Thr)	3913	LAMB2	Uncertain significance	-1	RCV002017407;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161345	49161345	49161345	-
NM_002292.4(LAMB2):c.3612G>C (p.Leu1204Phe)	3913	LAMB2	Uncertain significance	-1	RCV002958652;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161346	49161346	NC_000003.11:g.49161346C>G	-
NM_002292.4(LAMB2):c.3598G>C (p.Val1200Leu)	3913	LAMB2	Uncertain significance	-1	RCV002886207;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161360	49161360	NC_000003.11:g.49161360C>G	-
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln)	3913	LAMB2	Uncertain significance	-1	RCV001990478;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161362	49161362	49161362	-
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)	3913	LAMB2	Pathogenic	-1	RCV001783546\|RCV001885163;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161363	49161363	49161363	-
NM_002292.4(LAMB2):c.3583G>T (p.Gly1195Trp)	3913	LAMB2	Uncertain significance	-1	RCV002629410;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161375	49161375	NC_000003.11:g.49161375C>A	-
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs138540017	RCV000302099\|RCV000340672\|RCV000541504;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161376	49161376	NC_000003.11:g.49161376G>A	ClinGen:CA2394010	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3573T>C (p.His1191=)	3913	LAMB2	Likely benign	rs1343630379	RCV000528905\|RCV001406384;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161385	49161385	NC_000003.11:g.49161385A>G	ClinGen:CA433833623	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)	3913	LAMB2	Uncertain significance	rs760892618	RCV001049890;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161398	49161398	3:g.49161398C>T	-
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val)	3913	LAMB2	Uncertain significance	rs370877359	RCV000548194\|RCV001149698\|RCV001149697;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161411	49161411	NC_000003.11:g.49161411T>C	ClinGen:CA2394016	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His)	3913	LAMB2	Likely benign	-1	RCV001497089;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161425	49161425	49161425	-
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala)	3913	LAMB2	Uncertain significance	rs765996794	RCV001212817;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161437	49161437	3:g.49161437T>G	-
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs186771094	RCV001145384\|RCV001145383\|RCV001522733;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161460	49161460	3:g.49161460T>C	-
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His)	3913	LAMB2	Uncertain significance	rs374189761	RCV000811043;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161464	49161464	3:g.49161464C>T	-
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys)	3913	LAMB2	Uncertain significance	-1	RCV001363048;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161465	49161465	49161465	-
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs)	3913	LAMB2	Pathogenic	-1	RCV001985451;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161475	49161481	49161474	-
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His)	3913	LAMB2	Uncertain significance	rs766772811	RCV000517526\|RCV001303414;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161488	49161488	3:g.49161488C>T	ClinGen:CA2394030	CN169374 not specified;
NM_002292.4(LAMB2):c.3464G>A (p.Cys1155Tyr)	3913	LAMB2	Uncertain significance	-1	RCV002820758;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161494	49161494	NC_000003.11:g.49161494C>T	-
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His)	3913	LAMB2	Benign	rs138774635	RCV000539549\|RCV001145386\|RCV001145385\|RCV001618730;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49161515	49161515	3:g.49161515C>T	ClinGen:CA2394036	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3442C>T (p.Arg1148Cys)	3913	LAMB2	Uncertain significance	-1	RCV001904199;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161516	49161516	49161516	-
NM_002292.4(LAMB2):c.3427T>C (p.Cys1143Arg)	3913	LAMB2	Uncertain significance	-1	RCV001991894;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161531	49161531	49161531	-
NM_002292.4(LAMB2):c.3425C>G (p.Ala1142Gly)	3913	LAMB2	Uncertain significance	-1	RCV003011403;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161533	49161533	NC_000003.11:g.49161533G>C	-
NM_002292.4(LAMB2):c.3425-7C>A	3913	LAMB2	Uncertain significance	rs2045383891	RCV001145387\|RCV001145388;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161540	49161540	3:g.49161540G>T	-
NM_002292.4(LAMB2):c.3425-16C>G	3913	LAMB2	Likely benign	-1	RCV002633906;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161549	49161549	NC_000003.11:g.49161549G>C	-
NM_002292.4(LAMB2):c.3424+15G>C	3913	LAMB2	Likely benign	-1	RCV003081886;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161608	49161608	NC_000003.11:g.49161608C>G	-
NM_002292.4(LAMB2):c.3424+15G>A	3913	LAMB2	Uncertain significance	-1	RCV002903509;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161608	49161608	NC_000003.11:g.49161608C>T	-
NM_002292.4(LAMB2):c.3424+14C>T	3913	LAMB2	Likely benign	-1	RCV002659421;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161609	49161609	NC_000003.11:g.49161609G>A	-
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp)	3913	LAMB2	Uncertain significance	rs1404267963	RCV001322841;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161634	49161634	49161634	-
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=)	3913	LAMB2	Benign	rs34290943	RCV000247774\|RCV000297332\|RCV000390961\|RCV001512121\|RCV001722308;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49161660	49161660	3:g.49161660T>C	ClinGen:CA2394052	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser)	3913	LAMB2	Uncertain significance	rs199570781	RCV000266674\|RCV000361384\|RCV000649521;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:0008727,MONDO:MONDO	3	49161692	49161692	NC_000003.11:g.49161692C>T	ClinGen:CA2394060	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3330C>G (p.Phe1110Leu)	3913	LAMB2	Uncertain significance	-1	RCV001929173;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161717	49161717	49161717	-
NM_002292.4(LAMB2):c.3328-1G>C	3913	LAMB2	Pathogenic	-1	RCV003032716;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161720	49161720	NC_000003.11:g.49161720C>G	-
NM_002292.4(LAMB2):c.3327+8A>C	3913	LAMB2	Likely benign	rs756229789	RCV000887746\|RCV001454638;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161820	49161820	3:g.49161820T>G	-
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys)	3913	LAMB2	Benign	rs79677861	RCV000303115\|RCV000357795\|RCV000526940;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161830	49161830	NC_000003.11:g.49161830C>T	ClinGen:CA2394089	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs757491995	RCV001147323\|RCV001147322\|RCV002557155;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161831	49161831	3:g.49161831G>A	-
NM_002292.4(LAMB2):c.3302G>A (p.Arg1101Gln)	3913	LAMB2	Uncertain significance	-1	RCV001929856;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161853	49161853	49161853	-
NM_002292.4(LAMB2):c.3294C>T (p.His1098=)	3913	LAMB2	Likely benign	rs376981766	RCV000873855;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161861	49161861	3:g.49161861G>A	-
NM_002292.4(LAMB2):c.3287C>A (p.Ala1096Asp)	3913	LAMB2	Uncertain significance	-1	RCV001920928;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161868	49161868	49161868	-
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs369406683	RCV001147325\|RCV001147324\|RCV002557156;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161882	49161882	3:g.49161882A>G	-
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)	3913	LAMB2	Pathogenic	-1	RCV002731317;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161904	49161904	NC_000003.11:g.49161904C>T	-
NM_002292.4(LAMB2):c.3241C>T (p.Pro1081Ser)	3913	LAMB2	Uncertain significance	-1	RCV001935459;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161914	49161914	49161914	-
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His)	3913	LAMB2	Uncertain significance	-1	RCV001370595;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161922	49161922	49161922	-
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs753249251	RCV001246143\|RCV002570342;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49161934	49161934	3:g.49161934G>A	-
NM_002292.4(LAMB2):c.3200G>A (p.Cys1067Tyr)	3913	LAMB2	Uncertain significance	-1	RCV002797354;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49161955	49161955	NC_000003.11:g.49161955C>T	-
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=)	3913	LAMB2	Uncertain significance	rs886058673	RCV000268878\|RCV000382010;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161957	49161957	NC_000003.11:g.49161957T>C	ClinGen:CA10616925	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His)	3913	LAMB2	Uncertain significance	rs1553778039	RCV000550798;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161963	49161963	NC_000003.11:g.49161963C>G	ClinGen:CA352711502	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3177T>C (p.Asp1059=)	3913	LAMB2	Likely benign	-1	RCV002110975;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161978	49161978	49161978	-
NM_002292.4(LAMB2):c.3170A>G (p.His1057Arg)	3913	LAMB2	Uncertain significance	-1	RCV001905332;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161985	49161985	49161985	-
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del)	3913	LAMB2	Uncertain significance	rs756027369	RCV000809536;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49161996	49161998	3:g.49161996_49161998del	-
NM_002292.4(LAMB2):c.3154T>C (p.Ser1052Pro)	3913	LAMB2	Uncertain significance	-1	RCV001978054;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162001	49162001	49162001	-
NM_002292.4(LAMB2):c.3141G>A (p.Pro1047=)	3913	LAMB2	Likely benign	rs373002075	RCV000946134;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162014	49162014	3:g.49162014C>T	-
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu)	3913	LAMB2	Uncertain significance	rs758124972	RCV001065195;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162015	49162015	3:g.49162015G>A	-
NM_002292.4(LAMB2):c.3123C>A (p.Asn1041Lys)	3913	LAMB2	Uncertain significance	-1	RCV001885841;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162032	49162032	49162032	-
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser)	3913	LAMB2	Uncertain significance	rs149560677	RCV001057132;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162037	49162037	3:g.49162037A>T	-
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro)	3913	LAMB2	Uncertain significance	rs747604203	RCV000333358\|RCV000387637\|RCV002520158;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162040	49162040	NC_000003.11:g.49162040T>G	ClinGen:CA2394116	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3110-3C>T	3913	LAMB2	Uncertain significance	rs2045390515	RCV001325311;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162048	49162048	49162048	-
NM_002292.4(LAMB2):c.3110-15T>C	3913	LAMB2	Benign/Likely benign	rs147446447	RCV001148255\|RCV001148256\|RCV001539650\|RCV002070797;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49162060	49162060	3:g.49162060A>G	-
NM_002292.4(LAMB2):c.3110-20G>C	3913	LAMB2	Likely benign	-1	RCV002174613;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162065	49162065	49162065	-
NM_002292.4(LAMB2):c.3109+13G>C	3913	LAMB2	Uncertain significance	rs750600086	RCV001148258\|RCV001148257;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162121	49162121	3:g.49162121C>G	-
NM_002292.4(LAMB2):c.3109+1G>T	3913	LAMB2	Likely pathogenic	rs888830612	RCV000612771;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162133	49162133	NC_000003.11:g.49162133C>A	ClinGen:CA352712801	C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.3109+1G>A	3913	LAMB2	Likely pathogenic	-1	RCV001379904;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162133	49162133	49162133	-
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys)	3913	LAMB2	Uncertain significance	rs201159870	RCV000533645;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162134	49162134	3:g.49162134G>A	ClinGen:CA74479947	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3095G>A (p.Arg1032Gln)	3913	LAMB2	Uncertain significance	-1	RCV002574656\|RCV002584647;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49162148	49162148	NC_000003.11:g.49162148C>T	-
NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr)	3913	LAMB2	Uncertain significance	rs879255374	RCV000238979\|RCV002494684;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162155	49162155	3:g.49162155C>T	ClinGen:CA10585979	CN169374 not specified;
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu)	3913	LAMB2	Benign/Likely benign	rs368506627	RCV000293570\|RCV000348428\|RCV000558032\|RCV001516985\|RCV001731620;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49162172	49162172	NC_000003.11:g.49162172G>A	ClinGen:CA2394132	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp)	3913	LAMB2	Uncertain significance	rs780053995	RCV000687121;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162184	49162184	NC_000003.11:g.49162184G>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3052C>G (p.His1018Asp)	3913	LAMB2	Uncertain significance	-1	RCV002972556;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162191	49162191	NC_000003.11:g.49162191G>C	-
NM_002292.4(LAMB2):c.3045G>A (p.Glu1015=)	3913	LAMB2	Likely benign	rs746638105	RCV000904171\|RCV001471049;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162198	49162198	3:g.49162198C>T	-
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val)	3913	LAMB2	Uncertain significance	rs1269838719	RCV001351479;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162199	49162199	49162199	-
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg)	3913	LAMB2	Uncertain significance	rs2045392366	RCV001235953;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162205	49162205	3:g.49162205T>C	-
NM_002292.4(LAMB2):c.3036C>T (p.His1012=)	3913	LAMB2	Uncertain significance	rs777538430	RCV000280182\|RCV000375029;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162207	49162207	NC_000003.11:g.49162207G>A	ClinGen:CA10616926	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln)	3913	LAMB2	Uncertain significance	rs777538430	RCV000803954;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162207	49162207	3:g.49162207G>T	-
NM_002292.4(LAMB2):c.3033A>G (p.Leu1011_His1012=)	3913	LAMB2	Likely benign	-1	RCV002937064;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162210	49162210	NC_000003.11:g.49162210T>C	-
NM_002292.4(LAMB2):c.3026G>A (p.Arg1009His)	3913	LAMB2	Uncertain significance	-1	RCV001948385;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162217	49162217	49162217	-
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)	3913	LAMB2	Pathogenic	rs1560072794	RCV000015628;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162228	49162228	NC_000003.11:g.49162231del	OMIM:150325.0001
NM_002292.4(LAMB2):c.3012G>A (p.Thr1004_Gly1005=)	3913	LAMB2	Uncertain significance	-1	RCV002615118;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162231	49162231	NC_000003.11:g.49162231C>T	-
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr)	3913	LAMB2	Uncertain significance	rs769328932	RCV001318635;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162259	49162259	49162259	-
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val)	3913	LAMB2	Uncertain significance	rs773681564	RCV001288663\|RCV001871720;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162260	49162260	49162260	-
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr)	3913	LAMB2	Likely benign	rs148732023	RCV000875991;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162268	49162268	3:g.49162268A>G	-
NM_002292.4(LAMB2):c.2974A>G (p.Ile992Val)	3913	LAMB2	Likely benign	-1	RCV001433593;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162269	49162269	49162269	-
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp)	3913	LAMB2	Uncertain significance	rs146232955	RCV001347205;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162282	49162282	49162282	-
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys)	3913	LAMB2	Benign	rs34759087	RCV000252417\|RCV000335264\|RCV000401038\|RCV001512122\|RCV001675717;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49162284	49162284	3:g.49162284C>T	ClinGen:CA2394153,UniProtKB:P55268#VAR_031971	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2957G>A (p.Cys986Tyr)	3913	LAMB2	Uncertain significance	-1	RCV001892934;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162286	49162286	49162286	-
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln)	3913	LAMB2	Uncertain significance	rs149653966	RCV000700025;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162298	49162298	NC_000003.11:g.49162298C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2944C>T (p.Arg982Trp)	3913	LAMB2	Uncertain significance	-1	RCV001905548;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162299	49162299	49162299	-
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg)	3913	LAMB2	Uncertain significance	rs1575532774	RCV000796533;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162307	49162307	3:g.49162307G>C	-
NM_002292.4(LAMB2):c.2923G>A (p.Asp975Asn)	3913	LAMB2	Uncertain significance	-1	RCV002659280;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162320	49162320	NC_000003.11:g.49162320C>T	-
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs145465720	RCV000304855\|RCV000341133\|RCV000537395;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162321	49162321	NC_000003.11:g.49162321C>G	ClinGen:CA2394163	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser)	3913	LAMB2	Uncertain significance	rs1271329821	RCV001207856;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162335	49162335	3:g.49162335G>A	-
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr)	3913	LAMB2	Uncertain significance	rs771183113	RCV001220584;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162340	49162340	3:g.49162340C>T	-
NM_002292.4(LAMB2):c.2891G>A (p.Arg964Gln)	3913	LAMB2	Uncertain significance	-1	RCV001880897;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162352	49162352	49162352	-
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)	3913	LAMB2	Pathogenic	rs730880125	RCV000157282;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162353	49162353	NC_000003.11:g.49162353G>A	ClinGen:CA346413	C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.2885-8G>A	3913	LAMB2	Likely benign	rs374181186	RCV000945347\|RCV001410353;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162366	49162366	3:g.49162366C>T	-
NM_002292.4(LAMB2):c.2884+20C>T	3913	LAMB2	Likely benign	-1	RCV003021320;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162419	49162419	NC_000003.11:g.49162419G>A	-
NM_002292.4(LAMB2):c.2884+15del	3913	LAMB2	Uncertain significance	rs769133638	RCV000310830\|RCV000392693;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:0008727,MONDO:MONDO	3	49162424	49162424	NC_000003.11:g.49162428del	ClinGen:CA2394182	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2884+1del	3913	LAMB2	Pathogenic	-1	RCV003024583;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162438	49162438	NC_000003.11:g.49162440del	-
NM_002292.4(LAMB2):c.2883G>C (p.Thr961=)	3913	LAMB2	Uncertain significance	-1	RCV002009965;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162440	49162440	49162440	-
NM_002292.4(LAMB2):c.2879A>G (p.Tyr960Cys)	3913	LAMB2	Uncertain significance	-1	RCV002303412;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162444	49162444	49162444	-
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln)	3913	LAMB2	Uncertain significance	rs764846938	RCV001149812\|RCV001149813\|RCV002491437;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162453	49162453	3:g.49162453C>T	-
NM_002292.4(LAMB2):c.2869C>T (p.Arg957Trp)	3913	LAMB2	Uncertain significance	-1	RCV001880411;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162454	49162454	49162454	-
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp)	3913	LAMB2	Uncertain significance	rs1376202280	RCV000816675;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162461	49162461	3:g.49162461G>C	-
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe)	3913	LAMB2	Uncertain significance	rs146962414	RCV001236692;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162469	49162469	3:g.49162469T>A	-
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val)	3913	LAMB2	Uncertain significance	rs753039246	RCV001296476\|RCV002543049;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49162483	49162483	49162483	-
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln)	3913	LAMB2	Uncertain significance	rs201235061	RCV000365545\|RCV000392703\|RCV002480206;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162513	49162513	NC_000003.11:g.49162513C>T	ClinGen:CA2394201	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg)	3913	LAMB2	Uncertain significance	rs2045396597	RCV001145477\|RCV001145478;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162525	49162525	3:g.49162525G>C	-
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln)	3913	LAMB2	Uncertain significance	rs536235346	RCV001145479\|RCV001145480\|RCV001858953\|RCV002294446;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|H	3	49162549	49162549	3:g.49162549C>T	-
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp)	3913	LAMB2	Uncertain significance	rs190191113	RCV001314664;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162550	49162550	49162550	-
NM_002292.4(LAMB2):c.2766C>T (p.Gly922_Gln923=)	3913	LAMB2	Likely benign	-1	RCV002663079;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162557	49162557	NC_000003.11:g.49162557G>A	-
NM_002292.4(LAMB2):c.2765G>T (p.Gly922Val)	3913	LAMB2	Uncertain significance	-1	RCV002755854;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162558	49162558	NC_000003.11:g.49162558C>A	-
NM_002292.4(LAMB2):c.2756C>T (p.Pro919Leu)	3913	LAMB2	Uncertain significance	-1	RCV002716003;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162567	49162567	NC_000003.11:g.49162567G>A	-
NM_002292.4(LAMB2):c.2754G>T (p.Leu918=)	3913	LAMB2	Likely benign	-1	RCV001401468;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162569	49162569	49162569	-
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp)	3913	LAMB2	Uncertain significance	rs754155232	RCV001305670;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162574	49162574	49162574	-
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)	3913	LAMB2	Benign	rs35713889	RCV000247257\|RCV000307336\|RCV000371274\|RCV000712177\|RCV000556669\|RCV002294127;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C32801	3	49162583	49162583	NC_000003.11:g.49162583C>T	ClinGen:CA2394217	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2727T>C (p.Ile909=)	3913	LAMB2	Likely benign	rs376904255	RCV000878546\|RCV001503651;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162596	49162596	3:g.49162596A>G	-
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr)	3913	LAMB2	Uncertain significance	rs201756319	RCV000649520\|RCV003133460;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49162597	49162597	3:g.49162597A>G	ClinGen:CA2394222	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2724C>T (p.Cys908=)	3913	LAMB2	Likely benign	rs142012138	RCV000545837;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162599	49162599	3:g.49162599G>A	ClinGen:CA2394224	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2721-10C>T	3913	LAMB2	Likely benign	-1	RCV002182063;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162612	49162612	49162612	-
NM_002292.4(LAMB2):c.2720+13C>A	3913	LAMB2	Conflicting interpretations of pathogenicity	rs369359244	RCV000276749\|RCV000331713\|RCV002520159;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162673	49162673	NC_000003.11:g.49162673G>T	ClinGen:CA2394237	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2720+11A>G	3913	LAMB2	Likely benign	-1	RCV002168137;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162675	49162675	49162675	-
NM_002292.4(LAMB2):c.2713T>C (p.Cys905Arg)	3913	LAMB2	Uncertain significance	-1	RCV003091389;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162693	49162693	NC_000003.11:g.49162693A>G	-
NM_002292.4(LAMB2):c.2711A>G (p.His904Arg)	3913	LAMB2	Uncertain significance	-1	RCV001873060;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162695	49162695	49162695	-
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala)	3913	LAMB2	Uncertain significance	rs781530275	RCV001297352;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162704	49162704	49162704	-
NM_002292.4(LAMB2):c.2698A>G (p.Thr900Ala)	3913	LAMB2	Uncertain significance	-1	RCV002928653;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162708	49162708	NC_000003.11:g.49162708T>C	-
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His)	3913	LAMB2	Uncertain significance	rs375392013	RCV001337992;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162716	49162716	49162716	-
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)	3913	LAMB2	Benign/Likely benign	rs144092322	RCV000242465\|RCV001079800\|RCV000712176\|RCV001147425\|RCV001147424\|RCV002294126;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C32801	3	49162733	49162733	3:g.49162733G>A	ClinGen:CA2394253	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)	3913	LAMB2	Benign/Likely benign	rs527639885	RCV000712175\|RCV001088198;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162737	49162737	NC_000003.11:g.49162737G>A	-
NM_002292.4(LAMB2):c.2661C>A (p.Asn887Lys)	3913	LAMB2	Uncertain significance	-1	RCV001944776;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162745	49162745	49162745	-
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile)	3913	LAMB2	Uncertain significance	rs376553423	RCV000797285\|RCV002537041;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49162746	49162746	3:g.49162746T>A	-
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr)	3913	LAMB2	Uncertain significance	-1	RCV001938403;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162762	49162762	49162762	-
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser)	3913	LAMB2	Uncertain significance	rs781619412	RCV001147426\|RCV001147427\|RCV001858967;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162767	49162767	3:g.49162767T>C	-
NM_002292.4(LAMB2):c.2630G>T (p.Cys877Phe)	3913	LAMB2	Uncertain significance	-1	RCV001992695;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162776	49162776	49162776	-
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser)	3913	LAMB2	Uncertain significance	rs200108816	RCV001235190;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162780	49162780	3:g.49162780G>A	-
NM_002292.4(LAMB2):c.2611T>C (p.Phe871Leu)	3913	LAMB2	Uncertain significance	-1	RCV002023833;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162795	49162795	49162795	-
NM_002292.4(LAMB2):c.2597G>C (p.Arg866Pro)	3913	LAMB2	Uncertain significance	-1	RCV002035083;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162809	49162809	49162809	-
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)	3913	LAMB2	Uncertain significance	rs146326783	RCV000802733;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162818	49162818	3:g.49162818C>T	-
NM_002292.4(LAMB2):c.2586C>T (p.Asp862_Arg863=)	3913	LAMB2	Likely benign	-1	RCV003002762;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162820	49162820	NC_000003.11:g.49162820G>A	-
NM_002292.4(LAMB2):c.2579G>A (p.Arg860His)	3913	LAMB2	Uncertain significance	rs768251178	RCV001316083;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162827	49162827	49162827	-
NM_002292.4(LAMB2):c.2578C>T (p.Arg860Cys)	3913	LAMB2	Uncertain significance	-1	RCV001969251;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162828	49162828	49162828	-
NM_002292.4(LAMB2):c.2573G>A (p.Gly858Glu)	3913	LAMB2	Uncertain significance	-1	RCV002299234;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162833	49162833	49162833	-
NM_002292.4(LAMB2):c.2571T>C (p.Phe857_Gly858=)	3913	LAMB2	Likely benign	-1	RCV003049755;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162835	49162835	NC_000003.11:g.49162835A>G	-
NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu)	3913	LAMB2	Uncertain significance	rs774703538	RCV001339231;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162848	49162848	49162848	-
NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln)	3913	LAMB2	Uncertain significance	-1	RCV001363946;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162848	49162848	49162848	-
NM_002292.4(LAMB2):c.2552T>C (p.Leu851Pro)	3913	LAMB2	Uncertain significance	-1	RCV002810986;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162854	49162854	NC_000003.11:g.49162854A>G	-
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)	3913	LAMB2	Uncertain significance	rs950013669	RCV001060206;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162885	49162885	3:g.49162885T>G	-
NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val)	3913	LAMB2	Uncertain significance	-1	RCV001907409;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162893	49162893	49162893	-
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg)	3913	LAMB2	Uncertain significance	-1	RCV001372535;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49162897	49162897	49162897	-
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys)	3913	LAMB2	Uncertain significance	rs547498421	RCV001147428\|RCV001147429;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162900	49162900	3:g.49162900C>T	-
NM_002292.4(LAMB2):c.2505C>T (p.His835=)	3913	LAMB2	Benign/Likely benign	rs752783113	RCV000876433\|RCV001514569;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162901	49162901	3:g.49162901G>A	-
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val)	3913	LAMB2	Uncertain significance	rs2045403063	RCV001226903;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162917	49162917	3:g.49162917G>A	-
NM_002292.4(LAMB2):c.2489-7C>T	3913	LAMB2	Conflicting interpretations of pathogenicity	rs374958213	RCV000878392\|RCV001148353\|RCV001148354;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162924	49162924	3:g.49162924G>A	-
NM_002292.4(LAMB2):c.2489-10T>C	3913	LAMB2	Likely benign	-1	RCV002604794;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49162927	49162927	NC_000003.11:g.49162927A>G	-
NM_002292.4(LAMB2):c.2488+6C>G	3913	LAMB2	Uncertain significance	rs371384656	RCV001201621;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163174	49163174	3:g.49163174G>C	-
NM_002292.4(LAMB2):c.2480G>T (p.Gly827Val)	3913	LAMB2	Uncertain significance	-1	RCV003002715;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163188	49163188	NC_000003.11:g.49163188C>A	-
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=)	3913	LAMB2	Likely benign	rs1575533579	RCV000982041;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163193	49163193	3:g.49163193G>A	-
NM_002292.4(LAMB2):c.2473C>T (p.Pro825Ser)	3913	LAMB2	Uncertain significance	-1	RCV002579246;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163195	49163195	NC_000003.11:g.49163195G>A	-
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)	3913	LAMB2	Uncertain significance	rs775759513	RCV001228578\|RCV002563706;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49163198	49163198	3:g.49163198C>T	-
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe)	3913	LAMB2	Uncertain significance	rs746761674	RCV000263746\|RCV000367736\|RCV001850832;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163209	49163209	NC_000003.11:g.49163209T>A	ClinGen:CA2394298	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2450C>T (p.Ala817Val)	3913	LAMB2	Uncertain significance	-1	RCV002904310;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163218	49163218	NC_000003.11:g.49163218G>A	-
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His)	3913	LAMB2	Uncertain significance	rs886058674	RCV000318898\|RCV000372768\|RCV001850833;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163233	49163233	3:g.49163233C>T	ClinGen:CA10616338	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys)	3913	LAMB2	Uncertain significance	rs151134957	RCV000557096;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163234	49163234	3:g.49163234G>A	ClinGen:CA2394301	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2433C>T (p.Arg811=)	3913	LAMB2	Likely benign	-1	RCV001426797;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163235	49163235	49163235	-
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)	3913	LAMB2	Uncertain significance	rs201223945	RCV001071566;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163236	49163236	3:g.49163236C>T	-
NM_002292.4(LAMB2):c.2429G>A (p.Gly810Glu)	3913	LAMB2	Uncertain significance	-1	RCV002943284;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163239	49163239	NC_000003.11:g.49163239C>T	-
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val)	3913	LAMB2	Uncertain significance	rs200740666	RCV000810808;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163248	49163248	3:g.49163248C>A	-
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro)	3913	LAMB2	Uncertain significance	-1	RCV001367797;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163260	49163260	49163260	-
NM_002292.4(LAMB2):c.2398G>A (p.Gly800Ser)	3913	LAMB2	Uncertain significance	-1	RCV002700296;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163270	49163270	NC_000003.11:g.49163270C>T	-
NM_002292.4(LAMB2):c.2364_2393del (p.Gln788_Pro797del)	3913	LAMB2	Uncertain significance	-1	RCV002039449;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163275	49163304	49163274	-
NM_002292.4(LAMB2):c.2373G>A (p.Leu791=)	3913	LAMB2	Likely benign	rs1478443594	RCV000912821;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163295	49163295	3:g.49163295C>T	-
NM_002292.4(LAMB2):c.2357A>G (p.Asn786Ser)	3913	LAMB2	Uncertain significance	-1	RCV003039837;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163311	49163311	NC_000003.11:g.49163311T>C	-
NM_002292.4(LAMB2):c.2352G>T (p.Gln784His)	3913	LAMB2	Uncertain significance	-1	RCV002602509;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163316	49163316	NC_000003.11:g.49163316C>A	-
NM_002292.4(LAMB2):c.2344+14A>T	3913	LAMB2	Likely benign	-1	RCV002161228;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163386	49163386	49163386	-
NM_002292.4(LAMB2):c.2344+4_2344+7del	3913	LAMB2	Uncertain significance	rs774329010	RCV002633935;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163393	49163396	NC_000003.11:g.49163396_49163399del	-
NM_002292.4(LAMB2):c.2339C>T (p.Ala780Val)	3913	LAMB2	Uncertain significance	-1	RCV002005399;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163405	49163405	49163405	-
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp)	3913	LAMB2	Uncertain significance	rs200858061	RCV000823720;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163408	49163408	3:g.49163408C>T	-
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys)	3913	LAMB2	Uncertain significance	rs772581224	RCV000803313;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163414	49163414	3:g.49163414T>C	-
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs142116851	RCV000278236\|RCV000324025\|RCV000875623;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163422	49163422	3:g.49163422G>C	ClinGen:CA2394334	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2322C>T (p.Thr774_Leu775=)	3913	LAMB2	Likely benign	-1	RCV002967179;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163422	49163422	NC_000003.11:g.49163422G>A	-
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs147076626	RCV000250277\|RCV000544546\|RCV001149917\|RCV001149918\|RCV001699089\|RCV002294125;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049	3	49163437	49163437	3:g.49163437G>A	ClinGen:CA2394336	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val)	3913	LAMB2	Uncertain significance	rs773407518	RCV000687433;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163447	49163447	NC_000003.11:g.49163447G>A	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)	3913	LAMB2	Uncertain significance	rs763101025	RCV001149919\|RCV001149920\|RCV002483881;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163448	49163448	3:g.49163448C>T	-
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs201289156	RCV000284173\|RCV000378625\|RCV002520160;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163449	49163449	3:g.49163449G>A	ClinGen:CA2394342	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr)	3913	LAMB2	Uncertain significance	-1	RCV001954171;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163454	49163454	49163454	-
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro)	3913	LAMB2	Uncertain significance	rs752188860	RCV001315708;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163460	49163460	49163460	-
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg)	3913	LAMB2	Uncertain significance	rs143405268	RCV000699402\|RCV001312021;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49163473	49163473	NC_000003.11:g.49163473G>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2270G>A (p.Ser757Asn)	3913	LAMB2	Uncertain significance	-1	RCV002825272;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163474	49163474	NC_000003.11:g.49163474C>T	-
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu)	3913	LAMB2	Uncertain significance	rs1560073886	RCV000702150;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163481	49163481	NC_000003.11:g.49163481C>G	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs756931255	RCV001149921\|RCV001149922\|RCV002557225;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163482	49163482	3:g.49163482C>T	-
NM_002292.4(LAMB2):c.2258G>T (p.Gly753Val)	3913	LAMB2	Uncertain significance	-1	RCV002036906;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163486	49163486	49163486	-
NM_002292.4(LAMB2):c.2249dup (p.His750fs)	3913	LAMB2	Pathogenic	-1	RCV002833023;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163494	49163495	NC_000003.11:g.49163495dup	-
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His)	3913	LAMB2	Uncertain significance	rs141407145	RCV001049284;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163507	49163507	3:g.49163507C>T	-
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys)	3913	LAMB2	Uncertain significance	rs200658738	RCV000532494;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163508	49163508	3:g.49163508G>A	ClinGen:CA2394352	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2222A>C (p.Gln741Pro)	3913	LAMB2	Uncertain significance	-1	RCV002598146;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163522	49163522	NC_000003.11:g.49163522T>G	-
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu)	3913	LAMB2	Uncertain significance	rs781721930	RCV001065123;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163525	49163525	3:g.49163525C>A	-
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His)	3913	LAMB2	Uncertain significance	rs781721930	RCV001145583\|RCV001145582\|RCV002559405;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163525	49163525	3:g.49163525C>T	-
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys)	3913	LAMB2	Uncertain significance	rs748798004	RCV000804935;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163526	49163526	3:g.49163526G>A	-
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys)	3913	LAMB2	Uncertain significance	-1	RCV002023385;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163558	49163558	49163558	-
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val)	3913	LAMB2	Uncertain significance	rs760463111	RCV000794050;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163565	49163565	3:g.49163565G>C	-
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe)	3913	LAMB2	Uncertain significance	rs1466437719	RCV001213488;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163574	49163574	3:g.49163574C>A	-
NM_002292.4(LAMB2):c.2168G>A (p.Arg723His)	3913	LAMB2	Uncertain significance	rs542505535	RCV001207742;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163576	49163576	3:g.49163576C>T	-
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys)	3913	LAMB2	Uncertain significance	rs145660751	RCV000998076\|RCV001242837\|RCV002549994;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49163577	49163577	3:g.49163577G>A	-
NM_002292.4(LAMB2):c.2167C>G (p.Arg723Gly)	3913	LAMB2	Uncertain significance	-1	RCV002926939;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163577	49163577	NC_000003.11:g.49163577G>C	-
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)	3913	LAMB2	Uncertain significance	rs764955129	RCV001215883\|RCV002561876;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49163579	49163579	3:g.49163579G>T	-
NM_002292.4(LAMB2):c.2163G>T (p.Leu721_Pro722=)	3913	LAMB2	Likely benign	-1	RCV002944299;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163581	49163581	NC_000003.11:g.49163581C>A	-
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=)	3913	LAMB2	Uncertain significance	rs886058675	RCV000339182\|RCV000398932;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163590	49163590	3:g.49163590C>T	ClinGen:CA10616932	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs756535650	RCV000245548\|RCV000794720;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163592	49163592	NC_000003.11:g.49163592G>A	ClinGen:CA2394372	CN169374 not specified;
NM_002292.4(LAMB2):c.2152-5T>C	3913	LAMB2	Likely benign	-1	RCV001490603;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163597	49163597	49163597	-
NM_002292.4(LAMB2):c.2152-14G>A	3913	LAMB2	Likely benign	-1	RCV002179279;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163606	49163606	49163606	-
NM_002292.4(LAMB2):c.2151+16T>C	3913	LAMB2	Likely benign	-1	RCV002863707;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163782	49163782	NC_000003.11:g.49163782A>G	-
NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu)	3913	LAMB2	Uncertain significance	-1	RCV001972292;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163799	49163799	49163799	-
NM_002292.4(LAMB2):c.2121C>G (p.Pro707_Tyr708=)	3913	LAMB2	Likely benign	-1	RCV003044616;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163828	49163828	NC_000003.11:g.49163828G>C	-
NM_002292.4(LAMB2):c.2102G>T (p.Ser701Ile)	3913	LAMB2	Uncertain significance	-1	RCV003115717;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163847	49163847	NC_000003.11:g.49163847C>A	-
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala)	3913	LAMB2	Uncertain significance	rs142860588	RCV000806465;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163850	49163850	3:g.49163850C>G	-
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs142860588	RCV000877262\|RCV001145584\|RCV001145585;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163850	49163850	3:g.49163850C>T	-
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg)	3913	LAMB2	Benign/Likely benign	rs28364667	RCV000873014\|RCV001145587\|RCV001145586\|RCV002225756;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49163854	49163854	3:g.49163854C>G	-
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro)	3913	LAMB2	Uncertain significance	rs369063535	RCV001223845;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163857	49163857	3:g.49163857T>G	-
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln)	3913	LAMB2	Uncertain significance	-1	RCV001998215;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163859	49163859	49163859	-
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)	3913	LAMB2	Uncertain significance	rs149304508	RCV001145698\|RCV001145699\|RCV001317209;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163860	49163860	3:g.49163860G>A	-
NM_002292.4(LAMB2):c.2068A>C (p.Lys690Gln)	3913	LAMB2	Uncertain significance	-1	RCV001975526;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163881	49163881	49163881	-
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter)	3913	LAMB2	Pathogenic	rs121912489	RCV000015631\|RCV000735771;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163882	49163882	3:g.49163882G>C	ClinGen:CA124108,OMIM:150325.0004	C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.2063C>G (p.Ser688Cys)	3913	LAMB2	Uncertain significance	-1	RCV002584188;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163886	49163886	NC_000003.11:g.49163886G>C	-
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met)	3913	LAMB2	Uncertain significance	rs912735454	RCV000812324;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163888	49163888	3:g.49163888G>C	-
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu)	3913	LAMB2	Uncertain significance	rs373260991	RCV000806839;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163920	49163920	3:g.49163920A>G	-
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=)	3913	LAMB2	Uncertain significance	rs748124251	RCV001215099;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163930	49163930	3:g.49163930C>T	-
NM_002292.4(LAMB2):c.2019-5C>T	3913	LAMB2	Likely benign	-1	RCV002205620;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49163935	49163935	49163935	-
NM_002292.4(LAMB2):c.2019-8G>A	3913	LAMB2	Likely benign	rs377396194	RCV000874490;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163938	49163938	3:g.49163938C>T	-
NM_002292.4(LAMB2):c.2019-9C>T	3913	LAMB2	Likely benign	-1	RCV003090183;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49163939	49163939	NC_000003.11:g.49163939G>A	-
NM_002292.4(LAMB2):c.2018+8C>A	3913	LAMB2	Likely benign	rs1553778611	RCV000649526;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49165883	49165883	3:g.49165883G>T	ClinGen:CA658796318	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2018+2T>C	3913	LAMB2	Pathogenic	-1	RCV003032717;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165889	49165889	NC_000003.11:g.49165889A>G	-
NM_002292.4(LAMB2):c.1987C>T (p.Arg663Cys)	3913	LAMB2	Uncertain significance	-1	RCV002715778;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165922	49165922	NC_000003.11:g.49165922G>A	-
NM_002292.4(LAMB2):c.1980G>A (p.Lys660=)	3913	LAMB2	Uncertain significance	-1	RCV001976518;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165929	49165929	49165929	-
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=)	3913	LAMB2	Uncertain significance	rs777566654	RCV001326914;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165938	49165938	49165938	-
NM_002292.4(LAMB2):c.1965G>T (p.Gly655=)	3913	LAMB2	Likely benign	-1	RCV002219454;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165944	49165944	49165944	-
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp)	3913	LAMB2	Uncertain significance	-1	RCV001975828;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165960	49165960	49165960	-
NM_002292.4(LAMB2):c.1945C>T (p.Pro649Ser)	3913	LAMB2	Uncertain significance	-1	RCV002871369;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49165964	49165964	NC_000003.11:g.49165964G>A	-
NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)	3913	LAMB2	Uncertain significance	-1	RCV002308935\|RCV003099133;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165972	49165972	49165972	-
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs)	3913	LAMB2	Pathogenic	-1	RCV001950798;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49165974	49165975	49165974	-
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs200738080	RCV000699671\|RCV002263942;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49165978	49165978	3:g.49165978C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys)	3913	LAMB2	Uncertain significance	rs766396792	RCV001208071;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49165979	49165979	3:g.49165979G>A	-
NM_002292.4(LAMB2):c.1901A>C (p.Gln634Pro)	3913	LAMB2	Uncertain significance	-1	RCV002810304;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166008	49166008	NC_000003.11:g.49166008T>G	-
NM_002292.4(LAMB2):c.1891-10G>A	3913	LAMB2	Likely benign	rs746381319	RCV000649523;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166028	49166028	NC_000003.11:g.49166028C>T	ClinGen:CA2394461	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1891-11C>T	3913	LAMB2	Likely benign	rs778444207	RCV000241958\|RCV002058106;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166029	49166029	NC_000003.11:g.49166029G>A	ClinGen:CA2394462	CN169374 not specified;
NM_002292.4(LAMB2):c.1890+25G>A	3913	LAMB2	Benign	-1	RCV001654730\|RCV001730907;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166069	49166069	49166069	-
NM_002292.4(LAMB2):c.1890+19A>C	3913	LAMB2	Likely benign	-1	RCV002168395;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166075	49166075	49166075	-
NM_002292.4(LAMB2):c.1890+15T>C	3913	LAMB2	Likely benign	-1	RCV003076192;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166079	49166079	NC_000003.11:g.49166079A>G	-
NM_002292.4(LAMB2):c.1890+9C>T	3913	LAMB2	Likely benign	rs1575535180	RCV000926264;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166085	49166085	3:g.49166085G>A	-
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)	3913	LAMB2	Uncertain significance	rs148491867	RCV001057551;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166098	49166098	3:g.49166098G>A	-
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln)	3913	LAMB2	Uncertain significance	rs763825655	RCV001232873;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166102	49166102	3:g.49166102C>G	-
NM_002292.4(LAMB2):c.1877G>A (p.Arg626His)	3913	LAMB2	Uncertain significance	-1	RCV002026524;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166107	49166107	49166107	-
NM_002292.4(LAMB2):c.1873C>T (p.Leu625_Arg626=)	3913	LAMB2	Likely benign	-1	RCV002982847;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166111	49166111	NC_000003.11:g.49166111G>A	-
NM_002292.4(LAMB2):c.1862A>G (p.Tyr621Cys)	3913	LAMB2	Uncertain significance	-1	RCV001928809;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166122	49166122	49166122	-
NM_002292.4(LAMB2):c.1855A>G (p.Met619Val)	3913	LAMB2	Uncertain significance	-1	RCV002994609;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166129	49166129	NC_000003.11:g.49166129T>C	-
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=)	3913	LAMB2	Uncertain significance	rs1131791	RCV000692680;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166133	49166133	NC_000003.11:g.49166133C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1831C>T (p.Leu611=)	3913	LAMB2	Uncertain significance	rs886058676	RCV000289973\|RCV000345119;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166153	49166153	3:g.49166153G>A	ClinGen:CA10616339	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln)	3913	LAMB2	Uncertain significance	rs888403715	RCV001348777;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166159	49166159	49166159	-
NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln)	3913	LAMB2	Uncertain significance	-1	RCV001957480\|RCV002560504;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49166182	49166182	49166182	-
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs376785056	RCV001145700\|RCV001145701\|RCV001486611;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166187	49166187	3:g.49166187G>A	-
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro)	3913	LAMB2	Conflicting interpretations of pathogenicity	-1	RCV001864434\|RCV002551112;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49166195	49166195	49166195	-
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys)	3913	LAMB2	Uncertain significance	rs1405443471	RCV000820300;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166216	49166216	3:g.49166216C>T	-
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)	3913	LAMB2	Benign	rs33942096	RCV000250265\|RCV000314824\|RCV000407745\|RCV000556287\|RCV001610623\|RCV002294124;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49166220	49166220	NC_000003.11:g.49166220G>A	ClinGen:CA2394499	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)	3913	LAMB2	Uncertain significance	rs144324168	RCV001209943\|RCV002561720;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123	3	49166222	49166222	3:g.49166222G>C	-
NM_002292.4(LAMB2):c.1752C>G (p.Arg584=)	3913	LAMB2	Likely benign	-1	RCV002154524;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166232	49166232	49166232	-
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)	3913	LAMB2	Uncertain significance	rs369408727	RCV000695825\|RCV001148460\|RCV001148459;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166234	49166234	3:g.49166234G>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys)	3913	LAMB2	Uncertain significance	-1	RCV001909230;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166234	49166234	49166234	-
NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn)	3913	LAMB2	Uncertain significance	-1	RCV002042747;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166246	49166246	49166246	-
NM_002292.4(LAMB2):c.1731+16del	3913	LAMB2	Benign	-1	RCV002073478;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166437	49166437	49166436	-
NM_002292.4(LAMB2):c.1731+16C>A	3913	LAMB2	Likely benign	-1	RCV002731014;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166437	49166437	NC_000003.11:g.49166437G>T	-
NM_002292.4(LAMB2):c.1731+10C>T	3913	LAMB2	Likely benign	-1	RCV003067082;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166443	49166443	NC_000003.11:g.49166443G>A	-
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln)	3913	LAMB2	Benign/Likely benign	rs61729152	RCV000245118\|RCV000539161\|RCV001148461\|RCV001148462\|RCV002294123;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049	3	49166460	49166460	3:g.49166460C>T	ClinGen:CA2394524	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=)	3913	LAMB2	Likely benign	-1	RCV002193515;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166501	49166501	49166501	-
NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln)	3913	LAMB2	Uncertain significance	rs866448113	RCV000208452\|RCV002485361;	N	Human Phenotype Ontology:HP:0000097,Human Phenotype Ontology:HP:0004747,MONDO:MONDO:0005363,MedGen:C0017668,OMIM:PS603278\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166502	49166502	NC_000003.11:g.49166502C>T	ClinGen:CA358720	C0017668 Focal segmental glomerulosclerosis;
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp)	3913	LAMB2	Uncertain significance	rs748395355	RCV001051246;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166503	49166503	3:g.49166503G>A	-
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His)	3913	LAMB2	Uncertain significance	rs2045453433	RCV001203244;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166516	49166516	3:g.49166516T>G	-
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg)	3913	LAMB2	Uncertain significance	rs2045454131	RCV001342250;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166530	49166530	49166530	-
NM_002292.4(LAMB2):c.1652G>A (p.Arg551His)	3913	LAMB2	Uncertain significance	-1	RCV002957795;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166532	49166532	NC_000003.11:g.49166532C>T	-
NM_002292.4(LAMB2):c.1651C>T (p.Arg551Cys)	3913	LAMB2	Uncertain significance	rs766282298	RCV001261431\|RCV001880020;	N	\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166533	49166533	3:g.49166533G>A	-
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter)	3913	LAMB2	Pathogenic	rs1218889239	RCV002570445\|RCV003142224;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN517202	3	49166536	49166536	3:g.49166536G>A	ClinVar:974627
NM_002292.4(LAMB2):c.1637A>T (p.His546Leu)	3913	LAMB2	Uncertain significance	-1	RCV003077089;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166547	49166547	NC_000003.11:g.49166547T>A	-
NM_002292.4(LAMB2):c.1634A>C (p.Gln545Pro)	3913	LAMB2	Uncertain significance	-1	RCV003051076;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166550	49166550	NC_000003.11:g.49166550T>G	-
NM_002292.4(LAMB2):c.1614A>T (p.Thr538=)	3913	LAMB2	Likely benign	-1	RCV001405993;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166570	49166570	49166570	-
NM_002292.4(LAMB2):c.1599-1G>T	3913	LAMB2	Likely pathogenic	rs1330915067	RCV000516764\|RCV002527493;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166586	49166586	NC_000003.11:g.49166586C>A	ClinGen:CA352735218	CN517202 not provided;
NM_002292.4(LAMB2):c.1576G>A (p.Val526Met)	3913	LAMB2	Uncertain significance	-1	RCV002726983;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166700	49166700	NC_000003.11:g.49166700C>T	-
NM_002292.4(LAMB2):c.1575C>T (p.Asp525=)	3913	LAMB2	Conflicting interpretations of pathogenicity	-1	RCV002157834\|RCV002294510;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|Human Phenotype Ontology:HP:0000097,Human Phenotype Ontology:HP:0004747,MONDO:MONDO:0005363,MedGen:C0017668,OMIM:PS603278	3	49166701	49166701	49166701	-
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn)	3913	LAMB2	Uncertain significance	rs200694459	RCV000796651;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166703	49166703	3:g.49166703C>T	-
NM_002292.4(LAMB2):c.1572C>T (p.Cys524=)	3913	LAMB2	Likely benign	rs111883392	RCV000253315\|RCV000874920;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166704	49166704	NC_000003.11:g.49166704G>A	ClinGen:CA2394557	CN169374 not specified;
NM_002292.4(LAMB2):c.1569C>T (p.Asp523=)	3913	LAMB2	Likely benign	rs1169038040	RCV000902870\|RCV001416599;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166707	49166707	3:g.49166707G>A	-
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)	3913	LAMB2	Pathogenic/Likely pathogenic	-1	RCV001535880;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166712	49166712	49166711	-
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His)	3913	LAMB2	Uncertain significance	rs148333147	RCV000800776;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166717	49166717	3:g.49166717C>T	-
NM_002292.4(LAMB2):c.1558C>T (p.Arg520Cys)	3913	LAMB2	Uncertain significance	-1	RCV002047255;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166718	49166718	49166718	-
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser)	3913	LAMB2	Uncertain significance	-1	RCV001366985;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166724	49166724	49166724	-
NM_002292.4(LAMB2):c.1551C>T (p.Leu517=)	3913	LAMB2	Likely benign	-1	RCV001428662;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166725	49166725	49166725	-
NM_002292.4(LAMB2):c.1543G>A (p.Asp515Asn)	3913	LAMB2	Uncertain significance	-1	RCV001940528;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166733	49166733	49166733	-
NM_002292.4(LAMB2):c.1542C>T (p.His514=)	3913	LAMB2	Likely benign	rs150783390	RCV000874026\|RCV001492576;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166734	49166734	3:g.49166734G>A	-
NM_002292.4(LAMB2):c.1540C>T (p.His514Tyr)	3913	LAMB2	Uncertain significance	-1	RCV002775032;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166736	49166736	NC_000003.11:g.49166736G>A	-
NM_002292.4(LAMB2):c.1519-5T>C	3913	LAMB2	Likely benign	-1	RCV002075160;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166762	49166762	49166762	-
NM_002292.4(LAMB2):c.1519-6G>A	3913	LAMB2	Likely benign	-1	RCV001457763;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166763	49166763	49166763	-
NM_002292.4(LAMB2):c.1519-7C>T	3913	LAMB2	Likely benign	-1	RCV002620634;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49166764	49166764	NC_000003.11:g.49166764G>A	-
NM_002292.4(LAMB2):c.1519-20C>T	3913	LAMB2	Likely benign	-1	RCV003005723;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49166777	49166777	NC_000003.11:g.49166777G>A	-
NM_002292.4(LAMB2):c.1518+5G>A	3913	LAMB2	Uncertain significance	rs768311062	RCV001247090\|RCV001760285;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167032	49167032	3:g.49167032C>T	-
NM_002292.4(LAMB2):c.1518+4C>T	3913	LAMB2	Uncertain significance	rs902115828	RCV001064794;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167033	49167033	3:g.49167033G>A	-
NM_002292.4(LAMB2):c.1518+3G>A	3913	LAMB2	Uncertain significance	-1	RCV002047059;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167034	49167034	49167034	-
NM_002292.4(LAMB2):c.1511G>A (p.Arg504His)	3913	LAMB2	Uncertain significance	-1	RCV002741497;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167044	49167044	NC_000003.11:g.49167044C>T	-
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His)	3913	LAMB2	Uncertain significance	rs759499306	RCV001148463\|RCV001148464;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167056	49167056	3:g.49167056C>T	-
NM_002292.4(LAMB2):c.1498C>T (p.Arg500Cys)	3913	LAMB2	Uncertain significance	-1	RCV001991246;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167057	49167057	49167057	-
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer)	3913	LAMB2	Likely pathogenic	-1	RCV001808932;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167067	49167067	49167066	-
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)	3913	LAMB2	Pathogenic	rs969481454	RCV001052120;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167078	49167078	3:g.49167078_49167078del	-
NM_002292.4(LAMB2):c.1446T>C (p.Thr482=)	3913	LAMB2	Likely benign	rs778631081	RCV000923833\|RCV001477744;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167109	49167109	3:g.49167109A>G	-
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn)	3913	LAMB2	Uncertain significance	rs144230655	RCV000531143\|RCV000762116\|RCV001148465\|RCV001148466\|RCV002530191;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49167113	49167113	NC_000003.11:g.49167113C>T	ClinGen:CA2394589	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1433T>C (p.Val478Ala)	3913	LAMB2	Uncertain significance	-1	RCV002584243;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167122	49167122	NC_000003.11:g.49167122A>G	-
NM_002292.4(LAMB2):c.1424G>A (p.Arg475Gln)	3913	LAMB2	Uncertain significance	-1	RCV002599813;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167131	49167131	NC_000003.11:g.49167131C>T	-
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp)	3913	LAMB2	Uncertain significance	rs144487632	RCV000369480\|RCV000407732\|RCV002523449\|RCV002488755;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,	3	49167132	49167132	3:g.49167132G>A	ClinGen:CA2394591	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=)	3913	LAMB2	Likely benign	rs201408584	RCV000877038\|RCV001417009;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167133	49167133	3:g.49167133T>G	-
NM_002292.4(LAMB2):c.1414T>C (p.Cys472Arg)	3913	LAMB2	Uncertain significance	-1	RCV001977038;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167141	49167141	49167141	-
NM_002292.4(LAMB2):c.1413A>G (p.Gln471_Cys472=)	3913	LAMB2	Likely benign	-1	RCV002676958;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167142	49167142	NC_000003.11:g.49167142T>C	-
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln)	3913	LAMB2	Uncertain significance	rs1166721867	RCV000796393;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167149	49167149	3:g.49167149C>T	-
NM_002292.4(LAMB2):c.1406-11C>T	3913	LAMB2	Likely benign	-1	RCV002810597;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167160	49167160	NC_000003.11:g.49167160G>A	-
NM_002292.4(LAMB2):c.1405+9C>T	3913	LAMB2	Likely benign	-1	RCV001393102;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167263	49167263	49167263	-
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln)	3913	LAMB2	Uncertain significance	rs572289637	RCV000707574;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167274	49167274	NC_000003.11:g.49167274C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1394_1396del (p.Leu465_Gly466delinsArg)	3913	LAMB2	Uncertain significance	-1	RCV001876686;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167281	49167283	49167280	-
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=)	3913	LAMB2	Likely benign	-1	RCV002176637;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167285	49167285	49167285	-
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs188487818	RCV000890553\|RCV001150039\|RCV001150040;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167286	49167286	3:g.49167286C>T	-
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs)	3913	LAMB2	Pathogenic	-1	RCV002002466;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167286	49167287	49167286	-
NM_002292.4(LAMB2):c.1386T>G (p.Ser462Arg)	3913	LAMB2	Uncertain significance	-1	RCV002994978;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167291	49167291	NC_000003.11:g.49167291A>C	-
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=)	3913	LAMB2	Likely benign	rs373952285	RCV002502943;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167294	49167294	3:g.49167294G>A	-
NM_002292.4(LAMB2):c.1371T>C (p.Phe457_Gly458=)	3913	LAMB2	Likely benign	-1	RCV003115780;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167306	49167306	NC_000003.11:g.49167306A>G	-
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His)	3913	LAMB2	Uncertain significance	rs1428596182	RCV000554413;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167319	49167319	NC_000003.11:g.49167319C>T	ClinGen:CA352740820	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys)	3913	LAMB2	Uncertain significance	rs765252703	RCV000311391\|RCV000356877\|RCV000807174;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167320	49167320	NC_000003.11:g.49167320G>A	ClinGen:CA2394625	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg)	3913	LAMB2	Uncertain significance	rs1575535913	RCV000803997;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167325	49167325	3:g.49167325T>C	-
NM_002292.4(LAMB2):c.1329T>C (p.His443=)	3913	LAMB2	Likely benign	-1	RCV002090745;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167348	49167348	49167348	-
NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr)	3913	LAMB2	Uncertain significance	-1	RCV001879676;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167350	49167350	49167350	-
NM_002292.4(LAMB2):c.1316G>A (p.Arg439His)	3913	LAMB2	Uncertain significance	-1	RCV003067625;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167361	49167361	NC_000003.11:g.49167361C>T	-
NM_002292.4(LAMB2):c.1311G>A (p.Gln437=)	3913	LAMB2	Likely benign	rs754837577	RCV000915227\|RCV001394466;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167366	49167366	3:g.49167366C>T	-
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs142402808	RCV000658961\|RCV001087289\|RCV001150041\|RCV001150042;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49167371	49167371	3:g.49167371C>T	-	CN517202 not provided;
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs144530798	RCV000874254\|RCV001143914\|RCV001143915;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167372	49167372	3:g.49167372G>A	-
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu)	3913	LAMB2	Uncertain significance	rs770637532	RCV001230732;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167393	49167393	3:g.49167393G>T	-
NM_002292.4(LAMB2):c.1276del (p.His426fs)	3913	LAMB2	Pathogenic	-1	RCV001536030;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167401	49167401	49167400	-
NM_002292.4(LAMB2):c.1262G>A (p.Gly421Asp)	3913	LAMB2	Uncertain significance	-1	RCV003045453;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167415	49167415	NC_000003.11:g.49167415C>T	-
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser)	3913	LAMB2	Uncertain significance	rs762273762	RCV001055370;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167416	49167416	3:g.49167416C>T	-
NM_002292.4(LAMB2):c.1258G>A (p.Gly420Ser)	3913	LAMB2	Uncertain significance	-1	RCV002795245;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167419	49167419	NC_000003.11:g.49167419C>T	-
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu)	3913	LAMB2	Uncertain significance	rs146643686	RCV001242610;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167420	49167420	3:g.49167420G>T	-
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs)	3913	LAMB2	Pathogenic	-1	RCV001951019;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167434	49167435	49167434	-
NM_002292.4(LAMB2):c.1226-5G>A	3913	LAMB2	Benign	rs545564814	RCV000875015\|RCV002064789;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167456	49167456	3:g.49167456C>T	-
NM_002292.4(LAMB2):c.1226-15T>A	3913	LAMB2	Likely benign	-1	RCV002573103;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167466	49167466	NC_000003.11:g.49167466A>T	-
NM_002292.4(LAMB2):c.1225+20C>T	3913	LAMB2	Likely benign	-1	RCV002958168;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167644	49167644	NC_000003.11:g.49167644G>A	-
NM_002292.4(LAMB2):c.1224C>T (p.Arg408_Ser409=)	3913	LAMB2	Uncertain significance	-1	RCV002726961;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167665	49167665	NC_000003.11:g.49167665G>A	-
NM_002292.4(LAMB2):c.1223G>A (p.Arg408His)	3913	LAMB2	Uncertain significance	-1	RCV002579837;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167666	49167666	NC_000003.11:g.49167666C>T	-
NM_002292.4(LAMB2):c.1222C>T (p.Arg408Cys)	3913	LAMB2	Uncertain significance	-1	RCV001922986;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167667	49167667	49167667	-
NM_002292.4(LAMB2):c.1222C>A (p.Arg408Ser)	3913	LAMB2	Uncertain significance	-1	RCV001960819;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167667	49167667	49167667	-
NM_002292.4(LAMB2):c.1218G>A (p.Val406=)	3913	LAMB2	Likely benign	rs1284533242	RCV000932320\|RCV001443583;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167671	49167671	3:g.49167671C>T	-
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu)	3913	LAMB2	Uncertain significance	-1	RCV001363420;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167678	49167678	49167678	-
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs201999373	RCV000245018\|RCV000262149\|RCV000316156\|RCV000875473\|RCV002294122;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49167683	49167683	NC_000003.11:g.49167683C>T	ClinGen:CA2394669	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val)	3913	LAMB2	Uncertain significance	rs148956392	RCV001244835\|RCV002568601;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49167688	49167688	3:g.49167688G>C	-
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg)	3913	LAMB2	Uncertain significance	-1	RCV001372634;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167693	49167693	49167693	-
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile)	3913	LAMB2	Benign/Likely benign	rs77500937	RCV000254453\|RCV000266745\|RCV000361449\|RCV000712174\|RCV001087814\|RCV002294121;	N	MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C32801	3	49167696	49167696	3:g.49167696G>A	ClinGen:CA2394675	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1183C>G (p.Arg395Gly)	3913	LAMB2	Uncertain significance	-1	RCV002025358;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167706	49167706	49167706	-
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln)	3913	LAMB2	Uncertain significance	rs151276385	RCV001299242;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167720	49167720	49167720	-
NM_002292.4(LAMB2):c.1168C>T (p.Arg390Trp)	3913	LAMB2	Uncertain significance	-1	RCV003075404;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167721	49167721	NC_000003.11:g.49167721G>A	-
NM_002292.4(LAMB2):c.1164C>G (p.Leu388_Cys389=)	3913	LAMB2	Likely benign	-1	RCV002995832;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167725	49167725	NC_000003.11:g.49167725G>C	-
NM_002292.4(LAMB2):c.1150C>T (p.Arg384Cys)	3913	LAMB2	Uncertain significance	-1	RCV002647322;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167739	49167739	NC_000003.11:g.49167739G>A	-
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter)	3913	LAMB2	Pathogenic	rs121912490	RCV000015632;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167767	49167767	3:g.49167767A>T	ClinGen:CA124110,OMIM:150325.0005	C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.1117G>A (p.Val373Met)	3913	LAMB2	Uncertain significance	-1	RCV002824585;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167772	49167772	NC_000003.11:g.49167772C>T	-
NM_002292.4(LAMB2):c.1107G>C (p.Val369_Ser370=)	3913	LAMB2	Likely benign	-1	RCV002966567;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167782	49167782	NC_000003.11:g.49167782C>G	-
NM_002292.4(LAMB2):c.1083C>T (p.Ala361_Val362=)	3913	LAMB2	Likely benign	-1	RCV002957950;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167806	49167806	NC_000003.11:g.49167806G>A	-
NM_002292.4(LAMB2):c.1082C>T (p.Ala361Val)	3913	LAMB2	Uncertain significance	-1	RCV001949930;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49167807	49167807	49167807	-
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=)	3913	LAMB2	Likely benign	rs765736533	RCV000928789\|RCV002066079;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167815	49167815	3:g.49167815G>A	-
NM_002292.4(LAMB2):c.1068C>T (p.Cys356=)	3913	LAMB2	Likely benign	-1	RCV002088261;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167821	49167821	49167821	-
NM_002292.4(LAMB2):c.1037-7C>T	3913	LAMB2	Likely benign	-1	RCV002616440;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49167859	49167859	NC_000003.11:g.49167859G>A	-
NM_002292.4(LAMB2):c.1032T>C (p.Cys344_Arg345=)	3913	LAMB2	Likely benign	-1	RCV002932630;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168177	49168177	NC_000003.11:g.49168177A>G	-
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg)	3913	LAMB2	Uncertain significance	rs1308318910	RCV001207505;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168186	49168186	3:g.49168186A>T	-
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr)	3913	LAMB2	Uncertain significance	rs903919410	RCV000799175;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168191	49168191	3:g.49168191G>A	-
NM_002292.4(LAMB2):c.1017C>T (p.Gly339_His340=)	3913	LAMB2	Likely benign	-1	RCV003050899;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168192	49168192	NC_000003.11:g.49168192G>A	-
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)	3913	LAMB2	Uncertain significance	rs376294474	RCV001045616\|RCV001562080\|RCV002284210;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001967,Human Phenotype Ontology:HP:0004728,MedGen:C0268747	3	49168194	49168194	3:g.49168194C>T	-
NM_002292.4(LAMB2):c.1014C>T (p.Asp338=)	3913	LAMB2	Likely benign	rs150731491	RCV000908335;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168195	49168195	3:g.49168195G>A	-
NM_002292.4(LAMB2):c.1001G>A (p.Arg334His)	3913	LAMB2	Uncertain significance	-1	RCV002890387;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168208	49168208	NC_000003.11:g.49168208C>T	-
NM_002292.4(LAMB2):c.1000C>A (p.Arg334Ser)	3913	LAMB2	Uncertain significance	-1	RCV001906540;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168209	49168209	49168209	-
NM_002292.4(LAMB2):c.991C>T (p.Leu331=)	3913	LAMB2	Uncertain significance	rs561241970	RCV000321885\|RCV000376445;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168218	49168218	NC_000003.11:g.49168218G>A	ClinGen:CA2394734	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.986G>A (p.Arg329His)	3913	LAMB2	Uncertain significance	-1	RCV002671624;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168223	49168223	NC_000003.11:g.49168223C>T	-
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs2045472442	RCV001261592\|RCV001557926\|RCV002537622;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168239	49168239	3:g.49168239A>G	-
NM_002292.4(LAMB2):c.951T>A (p.Arg317=)	3913	LAMB2	Likely benign	rs755050242	RCV000952478;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168258	49168258	3:g.49168258A>T	-
NM_002292.4(LAMB2):c.950G>A (p.Arg317His)	3913	LAMB2	Uncertain significance	-1	RCV002001541;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168259	49168259	49168259	-
NM_002292.4(LAMB2):c.938A>G (p.Lys313Arg)	3913	LAMB2	Uncertain significance	-1	RCV001879270;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168271	49168271	49168271	-
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg)	3913	LAMB2	Uncertain significance	rs774169261	RCV000649519\|RCV002531943;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MeSH:D030342,MedGen:C0950123	3	49168287	49168287	3:g.49168287C>T	ClinGen:CA2394748	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.918G>T (p.Val306=)	3913	LAMB2	Likely benign	-1	RCV001990749;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168291	49168291	49168291	-
NM_002292.4(LAMB2):c.916-4A>G	3913	LAMB2	Conflicting interpretations of pathogenicity	rs886058677	RCV000291268\|RCV000327689\|RCV002523450;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168297	49168297	NC_000003.11:g.49168297T>C	ClinGen:CA10616343	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.916-8CT[3]	3913	LAMB2	Likely benign	-1	RCV002825224;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168297	49168298	NC_000003.11:g.49168298AG[3]	-
NM_002292.4(LAMB2):c.916-10A>G	3913	LAMB2	Uncertain significance	-1	RCV003012445;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168303	49168303	NC_000003.11:g.49168303T>C	-
NM_002292.4(LAMB2):c.915+16C>T	3913	LAMB2	Likely benign	-1	RCV002108613;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168367	49168367	49168367	-
NM_002292.4(LAMB2):c.915+6G>A	3913	LAMB2	Conflicting interpretations of pathogenicity	rs2071677	RCV000873653\|RCV001145809\|RCV001145808;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168377	49168377	3:g.49168377C>T	-
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr)	3913	LAMB2	Uncertain significance	rs199794467	RCV000728760\|RCV001041576;	N	MedGen:CN517202\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168384	49168384	NC_000003.11:g.49168384A>G	-
NM_002292.4(LAMB2):c.903T>A (p.His301Gln)	3913	LAMB2	Uncertain significance	rs565877727	RCV001304306;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168395	49168395	49168395	-
NM_002292.4(LAMB2):c.900C>T (p.Ala300=)	3913	LAMB2	Likely benign	-1	RCV002179244;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168398	49168398	49168398	-
NM_002292.4(LAMB2):c.891G>A (p.Gly297=)	3913	LAMB2	Likely benign	-1	RCV002123573;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168407	49168407	49168407	-
NM_002292.4(LAMB2):c.889G>A (p.Gly297Arg)	3913	LAMB2	Uncertain significance	-1	RCV001912220;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168409	49168409	49168409	-
NM_002292.4(LAMB2):c.883G>A (p.Ala295Thr)	3913	LAMB2	Uncertain significance	-1	RCV002780357;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168415	49168415	NC_000003.11:g.49168415C>T	-
NM_002292.4(LAMB2):c.882C>G (p.Pro294_Ala295=)	3913	LAMB2	Likely benign	-1	RCV002863146;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168416	49168416	NC_000003.11:g.49168416G>C	-
NM_002292.4(LAMB2):c.881C>A (p.Pro294His)	3913	LAMB2	Uncertain significance	-1	RCV001924026;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168417	49168417	49168417	-
NM_002292.4(LAMB2):c.876T>C (p.Cys292_Ala293=)	3913	LAMB2	Likely benign	-1	RCV002979242;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168422	49168422	NC_000003.11:g.49168422A>G	-
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly)	3913	LAMB2	Uncertain significance	rs757452525	RCV001327471\|RCV001773658;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49168426	49168426	49168426	-
NM_002292.4(LAMB2):c.864C>T (p.His288=)	3913	LAMB2	Likely benign	-1	RCV002082358;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168434	49168434	49168434	-
NM_002292.4(LAMB2):c.839G>A (p.Arg280His)	3913	LAMB2	Uncertain significance	-1	RCV002886442;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168459	49168459	NC_000003.11:g.49168459C>T	-
NM_002292.4(LAMB2):c.824A>C (p.Tyr275Ser)	3913	LAMB2	Uncertain significance	-1	RCV001987058;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168474	49168474	49168474	-
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs151251039	RCV000287600\|RCV000382224\|RCV000529365\|RCV001795964\|RCV002294303;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49168482	49168482	NC_000003.11:g.49168482A>G	ClinGen:CA2394793	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln)	3913	LAMB2	Uncertain significance	-1	RCV001754580\|RCV001882887;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168498	49168498	49168498	-
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs375953746	RCV000951442\|RCV001145811\|RCV001145810;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168503	49168503	3:g.49168503C>T	-
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala)	3913	LAMB2	Uncertain significance	rs903021924	RCV000791624;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168504	49168504	3:g.49168504T>G	-
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp)	3913	LAMB2	Uncertain significance	rs200316162	RCV001295481;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168511	49168511	49168511	-
NM_002292.4(LAMB2):c.783C>T (p.Asp261_Pro262=)	3913	LAMB2	Likely benign	-1	RCV002885315;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168515	49168515	NC_000003.11:g.49168515G>A	-
NM_002292.4(LAMB2):c.781G>A (p.Asp261Asn)	3913	LAMB2	Uncertain significance	-1	RCV003076875;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168517	49168517	NC_000003.11:g.49168517C>T	-
NM_002292.4(LAMB2):c.781G>T (p.Asp261Tyr)	3913	LAMB2	Uncertain significance	-1	RCV003071072;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168517	49168517	NC_000003.11:g.49168517C>A	-
NM_002292.4(LAMB2):c.763T>C (p.Leu255=)	3913	LAMB2	Likely benign	-1	RCV002174355;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168535	49168535	49168535	-
NM_002292.4(LAMB2):c.762G>A (p.Thr254=)	3913	LAMB2	Likely benign	-1	RCV002185147;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168536	49168536	49168536	-
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)	3913	LAMB2	Pathogenic	-1	RCV002810300;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168541	49168542	NC_000003.11:g.49168542_49168546dup	-
NM_002292.4(LAMB2):c.744C>T (p.Asn248_Leu249=)	3913	LAMB2	Likely benign	-1	RCV002922714;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168554	49168554	NC_000003.11:g.49168554G>A	-
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala)	3913	LAMB2	Uncertain significance	rs747693090	RCV000351917\|RCV000402403;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168558	49168558	NC_000003.11:g.49168558A>G	ClinGen:CA2394807	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	3913	LAMB2	Pathogenic/Likely pathogenic	rs121912488	RCV000015629\|RCV001335017\|RCV001849266\|RCV002504793;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ont	3	49168562	49168562	3:g.49168562G>A	ClinGen:CA124107,UniProtKB:P55268#VAR_031969,OMIM:150325.0002	C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.731A>C (p.Asn244Thr)	3913	LAMB2	Uncertain significance	-1	RCV002781260;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168567	49168567	NC_000003.11:g.49168567T>G	-
NM_002292.4(LAMB2):c.713-3C>T	3913	LAMB2	Uncertain significance	rs775876911	RCV000649525;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168588	49168588	3:g.49168588G>A	ClinGen:CA2394811	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.713-7G>A	3913	LAMB2	Likely benign	rs200186640	RCV000649527;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168592	49168592	3:g.49168592C>T	ClinGen:CA2394812	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.713-9_713-8del	3913	LAMB2	Likely benign	-1	RCV002094121;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168593	49168594	49168592	-
NM_002292.4(LAMB2):c.713-8C>T	3913	LAMB2	Likely benign	-1	RCV002932404;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168593	49168593	NC_000003.11:g.49168593G>A	-
NM_002292.4(LAMB2):c.713-9C>T	3913	LAMB2	Likely benign	-1	RCV002953113;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168594	49168594	NC_000003.11:g.49168594G>A	-
NM_002292.4(LAMB2):c.712+12_712+15dup	3913	LAMB2	Likely benign	-1	RCV002880803;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168796	49168797	NC_000003.11:g.49168799_49168802dup	-
NM_002292.4(LAMB2):c.712+14C>T	3913	LAMB2	Likely benign	-1	RCV002093389;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168798	49168798	49168798	-
NM_002292.4(LAMB2):c.704G>T (p.Arg235Leu)	3913	LAMB2	Uncertain significance	-1	RCV001939272;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168820	49168820	49168820	-
NM_002292.4(LAMB2):c.704G>A (p.Arg235Gln)	3913	LAMB2	Uncertain significance	-1	RCV002952523;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168820	49168820	NC_000003.11:g.49168820C>T	-
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs144133177	RCV000876120\|RCV001088975;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168821	49168821	3:g.49168821G>A	-
NM_002292.4(LAMB2):c.701C>T (p.Ser234Leu)	3913	LAMB2	Uncertain significance	-1	RCV001939047;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168823	49168823	49168823	-
NM_002292.4(LAMB2):c.696C>T (p.Tyr232=)	3913	LAMB2	Likely benign	-1	RCV002173944;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168828	49168828	49168828	-
NM_002292.4(LAMB2):c.690C>T (p.Asp230=)	3913	LAMB2	Likely benign	-1	RCV002099840;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168834	49168834	49168834	-
NM_002292.4(LAMB2):c.682A>G (p.Ile228Val)	3913	LAMB2	Uncertain significance	-1	RCV002971378;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168842	49168842	NC_000003.11:g.49168842T>C	-
NM_002292.4(LAMB2):c.661G>A (p.Val221Met)	3913	LAMB2	Uncertain significance	rs748711014	RCV000692610;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168863	49168863	3:g.49168863C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu)	3913	LAMB2	Uncertain significance	rs748711014	RCV001322069;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168863	49168863	49168863	-
NM_002292.4(LAMB2):c.659G>A (p.Arg220His)	3913	LAMB2	Uncertain significance	-1	RCV003064833;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168865	49168865	NC_000003.11:g.49168865C>T	-
NM_002292.4(LAMB2):c.656A>G (p.Tyr219Cys)	3913	LAMB2	Uncertain significance	-1	RCV002600160;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168868	49168868	NC_000003.11:g.49168868T>C	-
NM_002292.4(LAMB2):c.648+19G>T	3913	LAMB2	Likely benign	-1	RCV002157776;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49168949	49168949	49168949	-
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys)	3913	LAMB2	Uncertain significance	rs368339529	RCV000693061\|RCV002253567;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202	3	49168970	49168970	NC_000003.11:g.49168970C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.636C>G (p.Ser212=)	3913	LAMB2	Likely benign	-1	RCV002118375;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168980	49168980	49168980	-
NM_002292.4(LAMB2):c.624G>T (p.Glu208Asp)	3913	LAMB2	Uncertain significance	-1	RCV002304875;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49168992	49168992	49168992	-
NM_002292.4(LAMB2):c.615C>T (p.Arg205_Tyr206=)	3913	LAMB2	Likely benign	-1	RCV002612157;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169001	49169001	NC_000003.11:g.49169001G>A	-
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr)	3913	LAMB2	Uncertain significance	rs1575537041	RCV000802331;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169011	49169011	3:g.49169011C>T	-
NM_002292.4(LAMB2):c.603C>T (p.Val201_Cys202=)	3913	LAMB2	Likely benign	-1	RCV003091098;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169013	49169013	NC_000003.11:g.49169013G>A	-
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)	3913	LAMB2	Uncertain significance	rs149325182	RCV001203735\|RCV001288665\|RCV002561132;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	49169018	49169018	3:g.49169018C>T	-
NM_002292.4(LAMB2):c.594T>G (p.Asp198Glu)	3913	LAMB2	Uncertain significance	-1	RCV001969737;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169022	49169022	49169022	-
NM_002292.4(LAMB2):c.584G>A (p.Arg195Gln)	3913	LAMB2	Uncertain significance	-1	RCV002890466;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169032	49169032	NC_000003.11:g.49169032C>T	-
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp)	3913	LAMB2	Uncertain significance	-1	RCV001994067;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169033	49169033	49169033	-
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu)	3913	LAMB2	Uncertain significance	rs2045483102	RCV001148574\|RCV001148573;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169053	49169053	3:g.49169053C>T	-
NM_002292.4(LAMB2):c.560C>A (p.Pro187Gln)	3913	LAMB2	Uncertain significance	-1	RCV003044506;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169056	49169056	NC_000003.11:g.49169056G>T	-
NM_002292.4(LAMB2):c.540T>C (p.Tyr180=)	3913	LAMB2	Likely benign	-1	RCV002149538;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169076	49169076	49169076	-
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys)	3913	LAMB2	Uncertain significance	rs1335383406	RCV001148576\|RCV001148575;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169077	49169077	3:g.49169077T>C	-
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln)	3913	LAMB2	Uncertain significance	rs924410863	RCV000705497;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169089	49169089	NC_000003.11:g.49169089C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.513C>T (p.Thr171=)	3913	LAMB2	Likely benign	-1	RCV001417115;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169103	49169103	49169103	-
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)	3913	LAMB2	Benign/Likely benign	rs149856537	RCV000540152\|RCV001148578\|RCV001148577\|RCV001796116\|RCV002294348;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|M	3	49169106	49169106	3:g.49169106G>A	ClinGen:CA2394900	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.496G>A (p.Ala166Thr)	3913	LAMB2	Uncertain significance	-1	RCV002928180;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169120	49169120	NC_000003.11:g.49169120C>T	-
NM_002292.4(LAMB2):c.494C>T (p.Ser165Leu)	3913	LAMB2	Uncertain significance	-1	RCV001985682;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169122	49169122	49169122	-
NM_002292.4(LAMB2):c.491G>A (p.Arg164His)	3913	LAMB2	Uncertain significance	-1	RCV001965226;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169125	49169125	49169125	-
NM_002292.4(LAMB2):c.490C>T (p.Arg164Cys)	3913	LAMB2	Uncertain significance	-1	RCV003060689;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169126	49169126	NC_000003.11:g.49169126G>A	-
NM_002292.4(LAMB2):c.478A>G (p.Met160Val)	3913	LAMB2	Uncertain significance	rs2045483964	RCV001150143\|RCV001150144;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169138	49169138	3:g.49169138T>C	-
NM_002292.4(LAMB2):c.473C>G (p.Ala158Gly)	3913	LAMB2	Uncertain significance	-1	RCV002900654;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169143	49169143	NC_000003.11:g.49169143G>C	-
NM_002292.4(LAMB2):c.471T>C (p.Pro157=)	3913	LAMB2	Likely benign	-1	RCV002205375;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169145	49169145	49169145	-
NM_002292.4(LAMB2):c.469C>T (p.Pro157Ser)	3913	LAMB2	Uncertain significance	-1	RCV001887335;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169147	49169147	49169147	-
NM_002292.4(LAMB2):c.467G>A (p.Arg156His)	3913	LAMB2	Uncertain significance	rs1378409559	RCV000544140;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169149	49169149	3:g.49169149C>T	ClinGen:CA352751228	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.460-8C>G	3913	LAMB2	Likely benign	rs200141829	RCV000876934\|RCV001502705;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169164	49169164	3:g.49169164G>C	-
NM_002292.4(LAMB2):c.460-8C>A	3913	LAMB2	Likely benign	-1	RCV002628926;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169164	49169164	NC_000003.11:g.49169164G>T	-
NM_002292.4(LAMB2):c.452_453del (p.Thr151fs)	3913	LAMB2	Pathogenic	-1	RCV001390089;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169555	49169556	49169554	-
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)	3913	LAMB2	Likely pathogenic	rs387906644	RCV000022640\|RCV002482898;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169568	49169568	3:g.49169568T>C	ClinGen:CA128633,UniProtKB:P55268#VAR_066492,OMIM:150325.0011	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.431A>G (p.His144Arg)	3913	LAMB2	Uncertain significance	-1	RCV001990296;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169577	49169577	49169577	-
NM_002292.4(LAMB2):c.396G>A (p.Ala132_Val133=)	3913	LAMB2	Uncertain significance	-1	RCV002876543;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169612	49169612	NC_000003.11:g.49169612C>T	-
NM_002292.4(LAMB2):c.386-14G>T	3913	LAMB2	Likely benign	-1	RCV002741502;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169636	49169636	NC_000003.11:g.49169636C>A	-
NM_002292.4(LAMB2):c.386-15C>T	3913	LAMB2	Conflicting interpretations of pathogenicity	rs117575041	RCV000293315\|RCV000348499\|RCV002520161;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169637	49169637	NC_000003.11:g.49169637G>A	ClinGen:CA2394939	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.385+9A>G	3913	LAMB2	Likely benign	-1	RCV001870258;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169694	49169694	49169694	-
NM_002292.4(LAMB2):c.385+7C>G	3913	LAMB2	Likely benign	rs766856881	RCV002544473;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169696	49169696	3:g.49169696G>C	-
NM_002292.4(LAMB2):c.385+5G>A	3913	LAMB2	Uncertain significance	rs540191089	RCV001150146\|RCV001150145\|RCV002559440\|RCV002559441;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,	3	49169698	49169698	3:g.49169698C>T	-
NM_002292.4(LAMB2):c.359G>A (p.Arg120Gln)	3913	LAMB2	Uncertain significance	-1	RCV001905369;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169729	49169729	49169729	-
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp)	3913	LAMB2	Uncertain significance	rs1271143265	RCV001337187;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169730	49169730	49169730	-
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr)	3913	LAMB2	Likely benign	rs552475229	RCV001150148\|RCV001150147\|RCV002070818;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169778	49169778	3:g.49169778G>A	-
NM_002292.4(LAMB2):c.306C>T (p.Asn102=)	3913	LAMB2	Benign/Likely benign	rs79448908	RCV000242586\|RCV000299339\|RCV000399816\|RCV000550042\|RCV001546755\|RCV002294128;	N	MedGen:CN169374\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O	3	49169782	49169782	3:g.49169782G>A	ClinGen:CA2394966	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.302A>G (p.Asp101Gly)	3913	LAMB2	Uncertain significance	-1	RCV003045746;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169786	49169786	NC_000003.11:g.49169786T>C	-
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro)	3913	LAMB2	Uncertain significance	rs147691227	RCV000649518;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169804	49169804	3:g.49169804C>G	ClinGen:CA352755107	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.284G>A (p.Arg95His)	3913	LAMB2	Uncertain significance	rs147691227	RCV000707218\|RCV001144004\|RCV001144005;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169804	49169804	NC_000003.11:g.49169804C>T	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.283C>A (p.Arg95Ser)	3913	LAMB2	Uncertain significance	-1	RCV003083351;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169805	49169805	NC_000003.11:g.49169805G>T	-
NM_002292.4(LAMB2):c.283C>T (p.Arg95Cys)	3913	LAMB2	Uncertain significance	-1	RCV002585241;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169805	49169805	NC_000003.11:g.49169805G>A	-
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp)	3913	LAMB2	Uncertain significance	rs754551568	RCV000335613\|RCV000392421\|RCV001861220\|RCV002520162;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49169808	49169808	NC_000003.11:g.49169808G>A	ClinGen:CA2394972	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn)	3913	LAMB2	Uncertain significance	rs149408554	RCV000820852\|RCV001759607;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MedGen:CN517202	3	49169827	49169827	3:g.49169827C>G	-
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)	3913	LAMB2	Benign/Likely benign	rs149408554	RCV000873882\|RCV001144007\|RCV001144006\|RCV001577352\|RCV001703243;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|M	3	49169827	49169827	3:g.49169827C>T	-
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs140371771	RCV000305973\|RCV000360815\|RCV000649516;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169835	49169835	NC_000003.11:g.49169835C>T	ClinGen:CA2394979	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.252C>T (p.Asp84=)	3913	LAMB2	Likely benign	-1	RCV001400715;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169836	49169836	49169836	-
NM_002292.4(LAMB2):c.250-14C>T	3913	LAMB2	Benign/Likely benign	rs371403310	RCV000266146\|RCV000302586\|RCV002057888;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169852	49169852	NC_000003.11:g.49169852G>A	ClinGen:CA2394984	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.249+3G>A	3913	LAMB2	Uncertain significance	-1	RCV002988557;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169921	49169921	NC_000003.11:g.49169921C>T	-
NM_002292.4(LAMB2):c.237C>T (p.Val79=)	3913	LAMB2	Likely benign	-1	RCV002152877;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169936	49169936	49169936	-
NM_002292.4(LAMB2):c.228C>T (p.Tyr76=)	3913	LAMB2	Likely benign	-1	RCV002207769;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169945	49169945	49169945	-
NM_002292.4(LAMB2):c.217C>G (p.Pro73Ala)	3913	LAMB2	Uncertain significance	-1	RCV002012451;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169956	49169956	49169956	-
NM_002292.4(LAMB2):c.216C>T (p.Gly72=)	3913	LAMB2	Likely benign	rs768806166	RCV000877873\|RCV001407749;	N	MedGen:CN517202\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169957	49169957	3:g.49169957G>A	-
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val)	3913	LAMB2	Uncertain significance	rs766047117	RCV001038936;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49169982	49169982	3:g.49169982G>A	-
NM_002292.4(LAMB2):c.189T>C (p.Thr63=)	3913	LAMB2	Likely benign	rs200171185	RCV000960751;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49169984	49169984	3:g.49169984A>G	-
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln)	3913	LAMB2	Uncertain significance	-1	RCV001808063\|RCV002482340;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170000	49170000	49170000	-
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met)	3913	LAMB2	Uncertain significance	rs748829288	RCV000815225;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170021	49170021	3:g.49170021G>A	-
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val)	3913	LAMB2	Uncertain significance	rs758825199	RCV000698189;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170024	49170024	NC_000003.11:g.49170024G>A	-	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.130del (p.Arg44fs)	3913	LAMB2	Likely pathogenic	-1	RCV001808851;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170043	49170043	49170042	-
NM_002292.4(LAMB2):c.115G>A (p.Val39Met)	3913	LAMB2	Uncertain significance	-1	RCV001993026;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170058	49170058	49170058	-
NM_002292.4(LAMB2):c.114T>C (p.Asp38=)	3913	LAMB2	Likely benign	-1	RCV001468162;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170059	49170059	49170059	-
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs144765752	RCV000524651\|RCV000732468\|RCV001085501\|RCV001145914\|RCV001145915;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C32801	3	49170064	49170064	3:g.49170064G>C	ClinGen:CA2395042	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.107C>T (p.Ala36Val)	3913	LAMB2	Uncertain significance	-1	RCV002658115;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170066	49170066	NC_000003.11:g.49170066G>A	-
NM_002292.4(LAMB2):c.103C>T (p.Pro35Ser)	3913	LAMB2	Uncertain significance	-1	RCV002775567;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170070	49170070	NC_000003.11:g.49170070G>A	-
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)	3913	LAMB2	Conflicting interpretations of pathogenicity	rs202057459	RCV000271632\|RCV000366666\|RCV001516710\|RCV001753813;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|M	3	49170072	49170072	NC_000003.11:g.49170072G>T	ClinGen:CA2395047	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.99G>A (p.Gln33=)	3913	LAMB2	Likely benign	-1	RCV002120346;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170074	49170074	49170074	-
NM_002292.4(LAMB2):c.77-9T>C	3913	LAMB2	Likely benign	-1	RCV001446553;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170105	49170105	49170105	-
NM_002292.4(LAMB2):c.76+10C>T	3913	LAMB2	Conflicting interpretations of pathogenicity	rs370554848	RCV000955093\|RCV001148697\|RCV001148698;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170215	49170215	3:g.49170215G>A	-
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser)	3913	LAMB2	Uncertain significance	-1	RCV001911644;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170254	49170254	49170254	-
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro)	3913	LAMB2	Uncertain significance	rs373955878	RCV000649515;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170293	49170293	3:g.49170293A>G	ClinGen:CA2395077	C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.-12C>A	3913	LAMB2	Uncertain significance	rs768032929	RCV001148699\|RCV001148700;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170312	49170312	3:g.49170312G>T	-
NM_002292.4(LAMB2):c.-112A>T	3913	LAMB2	Uncertain significance	rs546461860	RCV000326653\|RCV000381797;	N	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507\|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670	3	49170412	49170412	NC_000003.11:g.49170412T>A	ClinGen:CA10619161	C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.-146G>T	3913	LAMB2	Uncertain significance	rs886058678	RCV000278030\|RCV000332959;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507	3	49170446	49170446	NC_000003.11:g.49170446C>A	ClinGen:CA10616347	C0027726 Nephrotic syndrome;
NM_002292.3(LAMB2):c.-200C>T	3913	LAMB2	Uncertain significance	rs886058679	RCV000293048\|RCV000387507;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:0008727,MONDO:MONDO	3	49170500	49170500	NC_000003.11:g.49170500G>A	ClinGen:CA10616348	C0027726 Nephrotic syndrome;
NM_002292.3(LAMB2):c.-279A>T	3913	LAMB2	Uncertain significance	rs886058682	RCV000302747\|RCV000402289;	N	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:0008727,MONDO:MONDO	3	49170579	49170579	NC_000003.11:g.49170579T>A	ClinGen:CA10619164	C0027726 Nephrotic syndrome;

MSeqDR Portal

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