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
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:Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537185
MeSH: C537185
OMIM: 609049;
MSeqDR LSDB:  
Genes: LAMB2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003623Neonatal onset
3 HP:0001284Areflexia
4 HP:0000618Blindness
5 HP:0001967Diffuse mesangial sclerosis
6 HP:0000969Edema
7 HP:0001290Generalized hypotonia
8 HP:0007774Hypoplasia of the ciliary body
9 HP:0007676Hypoplasia of the iris
10 HP:0003075Hypoproteinemia
11 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
12 HP:0000100Nephrotic syndrome
NAMDC:  Nephrotic syndrome
Neonatal onset
13 HP:0011502Posterior lenticonus
14 HP:0000093Proteinuria
15 HP:0003774Stage 5 chronic kidney disease Infantile onset
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000003.12:g.(?_49121216)_(49533209_?)del-1covers 13 genes, none of whichPathogenic-1RCV001033498|RCV001384888; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Or34915864949570642nana-1-
NM_002292.4(LAMB2):c.*92A>G3913LAMB2Uncertain significancers886058670RCV000300711|RCV000366994; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915856749158567TCNC_000003.11:g.49158567T>CClinGen:CA10616322C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)3913LAMB2Uncertain significancers11550620RCV000513389|RCV000553199|RCV001335016; NMedGen:CN517202|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:30650734915867749158677GC3:g.49158677G>CClinGen:CA2393543C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe)3913LAMB2Uncertain significancers2045219198RCV001147932|RCV001147933; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915870649158706GA3:g.49158706G>A-
NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=)3913LAMB2Likely benign-1RCV001406557; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915871049158710GA49158710-
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys)3913LAMB2Uncertain significancers2045220448RCV001305080; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915872749158727CT49158727-
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr)3913LAMB2Benign/Likely benignrs74951356RCV000253175|RCV000313486|RCV000545161|RCV000404994|RCV001589254; NMedGen: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, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:60904934915876349158763CTNC_000003.11:g.49158763C>TClinGen:CA2393553C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)3913LAMB2Conflicting interpretations of pathogenicityrs781092208RCV000268661|RCV000370453|RCV001465357; NMONDO: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:267034915877049158770AGNC_000003.11:g.49158770A>GClinGen:CA2393554C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=)3913LAMB2Uncertain significance-1RCV001872549; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915878249158782GC49158782-
NM_002292.4(LAMB2):c.5261-7T>C3913LAMB2Likely benign-1RCV002082948; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915880249158802AG49158802-
NM_002292.4(LAMB2):c.5261-8C>T3913LAMB2Likely benign-1RCV002098067; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915880349158803GA49158803-
NM_002292.4(LAMB2):c.5260+13G>A3913LAMB2Likely benign-1RCV002110763; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915885349158853CT49158853-
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)3913LAMB2Pathogenicrs1560063136RCV000015630; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915886749158868CCTNC_000003.11:g.49158868dupOMIM:150325.0003
NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln)3913LAMB2Uncertain significancers1575524600RCV000809199; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915887149158871AT3:g.49158871A>T-
NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=)3913LAMB2Likely benign-1RCV002101135; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915888249158882CT49158882-
NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly)3913LAMB2Uncertain significancers777643155RCV000532554; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915888649158886TCNC_000003.11:g.49158886T>CClinGen:CA2393578C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)3913LAMB2Uncertain significancers142041381RCV001149473|RCV001149474|RCV001355488|RCV001322924; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,O34915889349158893CT3:g.49158893C>T-
NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=)3913LAMB2Likely benign-1RCV002192108; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915889449158894GA49158894-
NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro)3913LAMB2Uncertain significance-1RCV001925902; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915889649158896CG49158896-
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val)3913LAMB2Uncertain significancers139156815RCV000552419; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915891349158913GA3:g.49158913G>AClinGen:CA2393582C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala)3913LAMB2Uncertain significance-1RCV001955447; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915891649158916TG49158916-
NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=)3913LAMB2Likely benign-1RCV002071839; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915892149158921CA49158921-
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val)3913LAMB2Uncertain significancers2045242099RCV001315809; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915894049158940GA49158940-
NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=)3913LAMB2Likely benign-1RCV002103333; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915895149158951CA49158951-
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=)3913LAMB2Benign/Likely benignrs114485284RCV000527194|RCV000591753|RCV001149475|RCV001149476; NMONDO: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:60904934915896049158960TC3:g.49158960T>CClinGen:CA2393589C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr)3913LAMB2Uncertain significance-1RCV001901136; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915896749158967TG49158967-
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His)3913LAMB2Uncertain significancers1188203180RCV001241764; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915897049158970CT3:g.49158970C>T-
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys)3913LAMB2Uncertain significancers201458234RCV000555600; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915897149158971GA3:g.49158971G>AClinGen:CA2393590C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)3913LAMB2Conflicting interpretations of pathogenicityrs139511264RCV000878748|RCV001149477|RCV001149478; NMONDO: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:30650734915898449158984CT3:g.49158984C>T-
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)3913LAMB2Uncertain significancers752667133RCV001056425; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915899149158991GT3:g.49158991G>T-
NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=)3913LAMB2Likely benignrs28612476RCV000952325|RCV002066318; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915901149159011AG3:g.49159011A>G-
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)3913LAMB2Conflicting interpretations of pathogenicityrs151292828RCV000326104|RCV000364497|RCV000649522; NMONDO: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:267034915901749159017GANC_000003.11:g.49159017G>AClinGen:CA2393599C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His)3913LAMB2Uncertain significance-1RCV001968122; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915901849159018CT49159018-
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)3913LAMB2Benign/Likely benignrs150465100RCV000527520|RCV001145190|RCV001145191|RCV001288664; NMONDO: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|M34915915649159156CA3:g.49159156C>AClinGen:CA2393620C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)3913LAMB2Likely benignrs150465100RCV000876069; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915915649159156CT3:g.49159156C>T-
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)3913LAMB2Uncertain significancers141473691RCV000272339|RCV000321246|RCV000551379|RCV001753812; NMONDO: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|M34915917849159178GANC_000003.11:g.49159178G>AClinGen:CA2393624C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val)3913LAMB2Benign/Likely benignrs199580679RCV000286001|RCV000516682|RCV000969809|RCV001029909; NMONDO: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,O34915919049159190CANC_000003.11:g.49159190C>AClinGen:CA2393625C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile)3913LAMB2Uncertain significancers1575526216RCV000820473|RCV001816905; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN16937434915919049159191CCATNC_000003.11:g.49159190_49159191delinsAT-
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg)3913LAMB2Benign/Likely benignrs200747448RCV000324723|RCV000518603|RCV000903269|RCV001029908; NMONDO: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,O34915919149159191CTNC_000003.11:g.49159191C>TClinGen:CA2393626C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln)3913LAMB2Uncertain significancers764128779RCV000280251|RCV000337761|RCV000800481; NMONDO: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:267034915919649159196CTNC_000003.11:g.49159196C>TClinGen:CA2393629C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp)3913LAMB2Uncertain significance-1RCV001906679; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915919749159197GA49159197-
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=)3913LAMB2Likely benignrs143723352RCV000907389; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915921949159219GA3:g.49159219G>A-
NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=)3913LAMB2Likely benign-1RCV002124535; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915923049159230AG49159230-
NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu)3913LAMB2Uncertain significance-1RCV001975800; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915925049159250GT49159250-
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro)3913LAMB2Uncertain significancers200761921RCV000534197; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915925949159259AG3:g.49159259A>GClinGen:CA2393645C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)3913LAMB2Uncertain significancers1294654447RCV001147148|RCV001147149; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915926349159263CT3:g.49159263C>T-
NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln)3913LAMB2Likely benign-1RCV002116515; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915926549159265CT49159265-
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp)3913LAMB2Uncertain significancers200165604RCV001066146; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915926649159266GA3:g.49159266G>A-
NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp)3913LAMB2Uncertain significance-1RCV001952325; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915927449159274CT49159274-
NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg)3913LAMB2Benign-1RCV001523568; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915928949159289TC49159289-
NM_002292.4(LAMB2):c.4924-11A>G3913LAMB2Likely benign-1RCV002160934; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915930449159304TC49159304-
NM_002292.4(LAMB2):c.4923+17A>G3913LAMB2Benign/Likely benignrs116836607RCV000248404|RCV001574178|RCV002058108; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915936049159360TCNC_000003.11:g.49159360T>CClinGen:CA2393665CN169374 not specified;
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys)3913LAMB2Uncertain significancers2045287048RCV001314716; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915938149159381TC49159381-
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp)3913LAMB2Uncertain significance-1RCV002004017; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915940349159403GA49159403-
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr)3913LAMB2Uncertain significancers144938183RCV001339168; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915941249159412CT49159412-
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr)3913LAMB2Uncertain significance-1RCV001361382; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915941849159418CT49159418-
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=)3913LAMB2Conflicting interpretations of pathogenicityrs148648480RCV000243237|RCV000292740|RCV000398762|RCV000876599; NMedGen: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,O34915942249159422CT3:g.49159422C>TClinGen:CA2393675C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro)3913LAMB2Uncertain significancers752674803RCV000526727; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915942349159423CG3:g.49159423C>GClinGen:CA352686980C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln)3913LAMB2Uncertain significancers752674803RCV000792322; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915942349159423CT3:g.49159423C>T-
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn)3913LAMB2Uncertain significancers763488594RCV001323321; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915942649159426AT49159426-
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)3913LAMB2Likely benign-1RCV001419767; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915943749159437GC49159437-
NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val)3913LAMB2Uncertain significance-1RCV001959654; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915944249159442TC49159442-
NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp)3913LAMB2Uncertain significance-1RCV002007635; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915944449159444CT49159444-
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=)3913LAMB2Benign-1RCV001520235; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915945249159452CT49159452-
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys)3913LAMB2Uncertain significancers1560066776RCV000722533|RCV001862120; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915947849159479GTTCNC_000003.11:g.49159478_49159479delinsTC-
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs)3913LAMB2Pathogenicrs769399002RCV000015637|RCV001851879; NMONDO: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:30650734915949649159496TGTNC_000003.11:g.49159496delOMIM:150325.0010,ClinGen:CA212957C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4782-15_4782-10del3913LAMB2Likely benignrs1575527834RCV000979879|RCV001491946; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915952849159533AAGGGGGA3:g.49159528_49159533del-
NM_002292.4(LAMB2):c.4781+8C>T3913LAMB2Likely benign-1RCV002131379; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915958849159588GA49159588-
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu)3913LAMB2Uncertain significancers1011098102RCV001242684; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915959949159599GT3:g.49159599G>T-
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)3913LAMB2Benign/Likely benignrs61729458RCV000251444|RCV000407807|RCV000350028|RCV000712179|RCV001082801; NMedGen:CN169374|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280134915960349159603GANC_000003.11:g.49159603G>AClinGen:CA2393708C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)3913LAMB2Pathogenicrs1553776921RCV000537956; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915960349159604GGC3:g.49159603_49159604insCClinGen:CA658657298C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4773G>A (p.Arg1591=)3913LAMB2Likely benign-1RCV001405833; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915960449159604CT49159604-
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter)3913LAMB2Pathogenicrs775456607RCV000817580; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915961549159615GA3:g.49159615G>A-
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly)3913LAMB2Uncertain significancers768491835RCV000557240; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915962649159626TC3:g.49159626T>CClinGen:CA2393715C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4749C>T (p.Ala1583=)3913LAMB2Likely benign-1RCV002130346; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915962849159628GA49159628-
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His)3913LAMB2Uncertain significance-1RCV001363574; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915963549159635CT49159635-
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys)3913LAMB2Uncertain significancers374187759RCV001309637; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915963649159636GA49159636-
NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys)3913LAMB2Uncertain significance-1RCV001945105; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915965449159654GA49159654-
NM_002292.4(LAMB2):c.4722A>G (p.Ala1574=)3913LAMB2Likely benignrs371619654RCV000922379|RCV002065975; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915965549159655TC3:g.49159655T>C-
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val)3913LAMB2Uncertain significancers371490301RCV001228507; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915966549159665GA3:g.49159665G>A-
NM_002292.4(LAMB2):c.4707G>A (p.Val1569=)3913LAMB2Likely benignrs1575528672RCV000940774|RCV001452967; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915967049159670CT3:g.49159670C>T-
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile)3913LAMB2Uncertain significancers373872524RCV000799654; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915968349159683CA3:g.49159683C>A-
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp)3913LAMB2Uncertain significancers780366815RCV000814057; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915968749159687GA3:g.49159687G>A-
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=)3913LAMB2Uncertain significancers2045317445RCV001148043|RCV001148044; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915968849159688GA3:g.49159688G>A-
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr)3913LAMB2Uncertain significancers768495334RCV001349492; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915969949159699CT49159699-
NM_002292.4(LAMB2):c.4676T>C (p.Ile1559Thr)3913LAMB2Uncertain significance-1RCV002000259; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915970149159701AG49159701-
NM_002292.4(LAMB2):c.4674G>A (p.Ala1558=)3913LAMB2Likely benign-1RCV002095108; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915970349159703CT49159703-
NM_002292.4(LAMB2):c.4668G>A (p.Ala1556=)3913LAMB2Likely benignrs766074746RCV000952344|RCV002066320; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915970949159709CT3:g.49159709C>T-
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val)3913LAMB2Likely benign-1RCV001733588|RCV002077179; NMONDO: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:267034915971049159710GA49159710-
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser)3913LAMB2Uncertain significancers764494090RCV000649517; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915973249159732CANC_000003.11:g.49159732C>AClinGen:CA2393741C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4626G>A (p.Glu1542=)3913LAMB2Likely benign-1RCV002080899; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915975149159751CT49159751-
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile)3913LAMB2Uncertain significancers781065313RCV001216011; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915976449159764GA3:g.49159764G>A-
NM_002292.4(LAMB2):c.4590T>C (p.Pro1530=)3913LAMB2Likely benign-1RCV002199368; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915978749159787AG49159787-
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg)3913LAMB2Uncertain significancers148069401RCV000536067; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916015149160151TCNC_000003.11:g.49160151T>CClinGen:CA2393774C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)3913LAMB2Pathogenicrs2045352880RCV001044619; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916015849160200CTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGC3:g.49160158_49160200del-
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)3913LAMB2Uncertain significancers1277967384RCV001051003; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916019449160194CT3:g.49160194C>T-
NM_002292.4(LAMB2):c.4498G>C (p.Ala1500Pro)3913LAMB2Uncertain significance-1RCV001875368; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916021249160212CG49160212-
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=)3913LAMB2Uncertain significancers199894011RCV001148045|RCV001148046; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916022849160228GA3:g.49160228G>A-
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln)3913LAMB2Uncertain significance-1RCV001989006; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916024149160241CT49160241-
NM_002292.4(LAMB2):c.4460C>T (p.Ala1487Val)3913LAMB2Uncertain significance-1RCV002017000; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916025049160250GA49160250-
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser)3913LAMB2Uncertain significancers917006966RCV001300978; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916025149160251CA49160251-
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp)3913LAMB2Uncertain significancers755963903RCV000820493; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916026649160266GA3:g.49160266G>A-
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala)3913LAMB2Uncertain significance-1RCV001916916; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916027249160272TC49160272-
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=)3913LAMB2Likely benign-1RCV001402389; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916028549160285GA49160285-
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr)3913LAMB2Uncertain significancers1377720264RCV000798371; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916029549160295CG3:g.49160295C>G-
NM_002292.4(LAMB2):c.4398A>G (p.Ala1466=)3913LAMB2Likely benign-1RCV001431716; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916031249160312TC49160312-
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp)3913LAMB2Uncertain significancers771487133RCV000799293; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916031749160317GA3:g.49160317G>A-
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln)3913LAMB2Benignrs148818522RCV000872737|RCV001148047|RCV001148048|RCV001707719; NMONDO: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|M34916034049160340CT3:g.49160340C>TClinGen:CA2393803CN169374 not specified;
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)3913LAMB2Conflicting interpretations of pathogenicityrs151037751RCV000309451|RCV000407789|RCV001476396; NMONDO: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:267034916034149160341GANC_000003.11:g.49160341G>AClinGen:CA2393804C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val)3913LAMB2Uncertain significancers1040319445RCV001314777; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916034349160343GA49160343-
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp)3913LAMB2Uncertain significancers901971113RCV000807095; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916034749160347GA3:g.49160347G>A-
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly)3913LAMB2Uncertain significance-1RCV001366004; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916036149160361TC49160361-
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=)3913LAMB2Likely benignrs202083663RCV000649524; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916036349160363TG3:g.49160363T>GClinGen:CA2393806C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4338G>A (p.Ala1446=)3913LAMB2Likely benign-1RCV001502251; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916037249160372CT49160372-
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val)3913LAMB2Uncertain significancers757984116RCV001344743; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916037349160373GA49160373-
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser)3913LAMB2Uncertain significancers1327659310RCV001345620; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916038249160382TC49160382-
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg)3913LAMB2Uncertain significance-1RCV002012240; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916038749160387GC49160387-
NM_002292.4(LAMB2):c.4308C>T (p.Arg1436=)3913LAMB2Likely benign-1RCV002215990; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916040249160402GA49160402-
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His)3913LAMB2Uncertain significancers377526198RCV001195701|RCV001859179; NHuman Phenotype Ontology:HP:0000099,MONDO:MONDO:0002462,MedGen:C0017658|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916040349160403CT3:g.49160403C>T-
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys)3913LAMB2Uncertain significance-1RCV001940109; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916040449160404GA49160404-
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=)3913LAMB2Likely benign-1RCV002157007; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916040549160405CT49160405-
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)3913LAMB2Uncertain significancers140968382RCV000696350; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916040649160406GA3:g.49160406G>A-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4299G>A (p.Gly1433=)3913LAMB2Likely benignrs1165303917RCV000978883|RCV001399820; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916041149160411CT3:g.49160411C>T-
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)3913LAMB2Likely pathogenicrs2045366127RCV001251186; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916043349160434GGC3:g.49160433_49160434insC-
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala)3913LAMB2Uncertain significancers141317511RCV000689520; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916043649160436CG3:g.49160436C>G-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=)3913LAMB2Likely benignrs149536828RCV000877468; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916045349160453AG3:g.49160453A>G-
NM_002292.4(LAMB2):c.4227G>A (p.Val1409=)3913LAMB2Conflicting interpretations of pathogenicityrs766376770RCV000591944|RCV002062104; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916048349160483CT3:g.49160483C>TClinGen:CA2393828CN169374 not specified;
NM_002292.4(LAMB2):c.4225-5G>C3913LAMB2Likely benignrs372161777RCV000876889; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916049049160490CG3:g.49160490C>G-
NM_002292.4(LAMB2):c.4225-7del3913LAMB2Uncertain significance-1RCV001902752; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916049249160492AGA49160491-
NM_002292.4(LAMB2):c.4224+19G>A3913LAMB2Benignrs114913744RCV000249529|RCV001707587|RCV002058107; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916054649160546CT3:g.49160546C>TClinGen:CA2393845CN169374 not specified;
NM_002292.4(LAMB2):c.4224+19G>C3913LAMB2Likely benign-1RCV002217808; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916054649160546CG49160546-
NM_002292.4(LAMB2):c.4224+8T>C3913LAMB2Likely benign-1RCV002168932; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916055749160557AG49160557-
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=)3913LAMB2Benign/Likely benignrs143974640RCV000265314|RCV000366469|RCV000559878|RCV001562465; NMONDO: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|M34916056749160567GANC_000003.11:g.49160567G>AClinGen:CA2393847C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs)3913LAMB2Pathogenic-1RCV001930087; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916058849160588CTC49160587-
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln)3913LAMB2Benign/Likely benignrs146522641RCV000542773|RCV001090579|RCV001149593|RCV001149594; NMONDO: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,O34916062649160626CTNC_000003.11:g.49160626C>TClinGen:CA2393857C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser)3913LAMB2Uncertain significancers769093652RCV001321441; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916063249160632TC49160632-
NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu)3913LAMB2Uncertain significance-1RCV001974745; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916063949160639TA49160639-
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)3913LAMB2Uncertain significancers150064487RCV001149595|RCV001149596|RCV001580281|RCV002032384; NMONDO: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|MONDO34916064049160640GT3:g.49160640G>T-
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg)3913LAMB2Uncertain significancers754983373RCV000808658|RCV001149598|RCV001149597|RCV001759554; NMONDO: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|M34916064149160641TC3:g.49160641T>C-
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)3913LAMB2Uncertain significancers267607207RCV000530745|RCV001145297|RCV001145298; NMONDO: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:267034916064949160649GT3:g.49160649G>TClinGen:CA074242,UniProtKB:P55268#VAR_031972,OMIM:150325.0007,ClinVar:14535C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4139A>G (p.Asn1380Ser)3913LAMB2Uncertain significance-1RCV002019620; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916065049160650TC49160650-
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=)3913LAMB2Uncertain significancers774234171RCV000304046|RCV000361200; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916065549160655GANC_000003.11:g.49160655G>AClinGen:CA2393865C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)3913LAMB2Uncertain significancers112933248RCV000559112|RCV001145299|RCV001145300|RCV001764596; NMONDO: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|M34916067149160671TCNC_000003.11:g.49160671T>CClinGen:CA2393867C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4100G>C (p.Arg1367Pro)3913LAMB2Uncertain significance-1RCV001950149; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916068949160689CG49160689-
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg)3913LAMB2Uncertain significance-1RCV001893885; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916069249160692TC49160692-
NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln)3913LAMB2Uncertain significance-1RCV001883784; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916069549160695CT49160695-
NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly)3913LAMB2Uncertain significance-1RCV002016900; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916071449160714TC49160714-
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=)3913LAMB2Likely benign-1RCV001431816; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916071849160718AG49160718-
NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu)3913LAMB2Uncertain significance-1RCV002031209; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916071949160719GA49160719-
NM_002292.4(LAMB2):c.4067G>A (p.Ser1356Asn)3913LAMB2Uncertain significance-1RCV001865014; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916072249160722CT49160722-
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile)3913LAMB2Uncertain significance-1RCV001943731; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916072949160729CT49160729-
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser)3913LAMB2Uncertain significancers771215576RCV000259456|RCV000316800; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916074649160746TCNC_000003.11:g.49160746T>CClinGen:CA2393882C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4039G>A (p.Ala1347Thr)3913LAMB2Uncertain significance-1RCV001999657; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916075049160750CT49160750-
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His)3913LAMB2Uncertain significance-1RCV001967472; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916075249160752CT49160752-
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His)3913LAMB2Benignrs75073433RCV000244775|RCV000262930|RCV000373800|RCV000546571; NMedGen: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,O34916075549160755CT3:g.49160755C>TClinGen:CA2393885C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)3913LAMB2Uncertain significance-1RCV002042035; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916075649160756GA49160756-
NM_002292.4(LAMB2):c.4011T>C (p.His1337=)3913LAMB2Uncertain significancers886058671RCV000329761|RCV000386874; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916077849160778AGNC_000003.11:g.49160778A>GClinGen:CA10616330C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val)3913LAMB2Uncertain significancers886058672RCV000294911|RCV000352016; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916078249160782GANC_000003.11:g.49160782G>AClinGen:CA10616334C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly)3913LAMB2Uncertain significancers886058672RCV000810231; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916078249160782GC3:g.49160782G>C-
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg)3913LAMB2Uncertain significancers775944984RCV001312852; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916078549160785TC49160785-
NM_002292.4(LAMB2):c.4001G>C (p.Arg1334Pro)3913LAMB2Uncertain significancers144783830RCV000762115|RCV001855948; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916078849160788CGNC_000003.11:g.49160788C>G-
NM_002292.4(LAMB2):c.4001G>A (p.Arg1334Gln)3913LAMB2Uncertain significance-1RCV001970445; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916078849160788CT49160788-
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn)3913LAMB2Uncertain significancers980152482RCV001147246|RCV001147245; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916079449160794CT3:g.49160794C>T-
NM_002292.4(LAMB2):c.3983-10C>T3913LAMB2Likely benign-1RCV002111743; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916081649160816GA49160816-
NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp)3913LAMB2Uncertain significance-1RCV001980969; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916088949160889TC49160889-
NM_002292.4(LAMB2):c.3928A>C (p.Thr1310Pro)3913LAMB2Uncertain significance-1RCV001898686; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916093449160934TG49160934-
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs)3913LAMB2Pathogenic-1RCV001888455; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916097049160980CTTAGTGCATGGC49160969-
NM_002292.4(LAMB2):c.3887C>T (p.Ala1296Val)3913LAMB2Uncertain significance-1RCV001952747; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916097549160975GA49160975-
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile)3913LAMB2Likely benignrs148246465RCV000529393|RCV001148141|RCV001148142; NMONDO: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:30650734916098749160987TA3:g.49160987T>AClinGen:CA2393920C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser)3913LAMB2Uncertain significancers148246465RCV001038457; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916098749160987TC3:g.49160987T>C-
NM_002292.4(LAMB2):c.3870C>T (p.Asn1290=)3913LAMB2Likely benign-1RCV002208912; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916099249160992GA49160992-
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)3913LAMB2Benign/Likely benignrs34967349RCV000554943|RCV001080493|RCV001148143|RCV001148144|RCV001821592; NMedGen: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|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:60904934916100449161004CANC_000003.11:g.49161004C>AClinGen:CA2393922C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys)3913LAMB2Uncertain significancers532092193RCV001297241; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916102449161024CT49161024-
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=)3913LAMB2Uncertain significancers775950352RCV001148145|RCV001148146; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916102549161025GA3:g.49161025G>A-
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=)3913LAMB2Likely benign-1RCV002148381; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916103649161036GA49161036-
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr)3913LAMB2Uncertain significancers750462831RCV001053584; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916105649161056AG3:g.49161056A>G-
NM_002292.4(LAMB2):c.3798-16C>A3913LAMB2Likely benign-1RCV002200087; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916108049161080GT49161080-
NM_002292.4(LAMB2):c.3798-16del3913LAMB2Benign-1RCV002117768; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916108049161080AGA49161079-
NM_002292.4(LAMB2):c.3798-17C>G3913LAMB2Likely benign-1RCV002088620; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916108149161081GC49161081-
NM_002292.4(LAMB2):c.3798-18C>A3913LAMB2Likely benign-1RCV002167298; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916108249161082GT49161082-
NM_002292.4(LAMB2):c.3797+5G>A3913LAMB2Uncertain significancers150213016RCV000542271; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916115649161156CTNC_000003.11:g.49161156C>TClinGen:CA2393960C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3797+4C>T3913LAMB2Likely benign-1RCV001484652; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916115749161157GA49161157-
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val)3913LAMB2Uncertain significancers771785818RCV000810768|RCV001330711; NMONDO: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:30650734916118649161186GC3:g.49161186G>C-
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala)3913LAMB2Uncertain significancers1180166011RCV000529689; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916119549161195TCNC_000003.11:g.49161195T>CClinGen:CA352704371C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr)3913LAMB2Uncertain significancers141062242RCV000554100; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916120149161201CTNC_000003.11:g.49161201C>TClinGen:CA2393971C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3756C>T (p.Ala1252=)3913LAMB2Likely benign-1RCV001461670; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916120249161202GA49161202-
NM_002292.4(LAMB2):c.3747C>T (p.Asn1249=)3913LAMB2Likely benign-1RCV002122431; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916121149161211GA49161211-
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg)3913LAMB2Uncertain significancers755874006RCV000811571; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916123149161231CG3:g.49161231C>G-
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val)3913LAMB2Uncertain significance-1RCV002008690; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916124049161240TC49161240-
NM_002292.4(LAMB2):c.3708G>T (p.Glu1236Asp)3913LAMB2Uncertain significance-1RCV001881040; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916125049161250CA49161250-
NM_002292.4(LAMB2):c.3690C>T (p.Ser1230=)3913LAMB2Likely benign-1RCV002075686; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916126849161268GA49161268-
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp)3913LAMB2Uncertain significance-1RCV001895813; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916128449161284CT49161284-
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg)3913LAMB2Uncertain significancers748563846RCV000289091|RCV000381026; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916129449161294CGNC_000003.11:g.49161294C>GClinGen:CA2393987C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met)3913LAMB2Uncertain significance-1RCV001907588; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916129649161296GA49161296-
NM_002292.4(LAMB2):c.3659A>T (p.Gln1220Leu)3913LAMB2Uncertain significance-1RCV002002136; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916129949161299TA49161299-
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)3913LAMB2Conflicting interpretations of pathogenicityrs13082063RCV000649528|RCV001149696|RCV001149695|RCV001662706; NMONDO: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|M34916131349161313CT3:g.49161313C>TClinGen:CA2393992C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly)3913LAMB2Uncertain significancers140456179RCV000346336|RCV000390950|RCV001861219; NMONDO: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:267034916131449161314GCNC_000003.11:g.49161314G>CClinGen:CA2393993C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln)3913LAMB2Uncertain significance-1RCV001963351; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916131749161317CT49161317-
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp)3913LAMB2Uncertain significancers760524944RCV000700593; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916131849161318GANC_000003.11:g.49161318G>A-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His)3913LAMB2Uncertain significancers1447799031RCV001228155; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916133849161338CT3:g.49161338C>T-
NM_002292.4(LAMB2):c.3619C>T (p.Arg1207Cys)3913LAMB2Uncertain significance-1RCV001888965; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916133949161339GA49161339-
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val)3913LAMB2Uncertain significance-1RCV001911733; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916134149161341GA49161341-
NM_002292.4(LAMB2):c.3613G>A (p.Ala1205Thr)3913LAMB2Uncertain significance-1RCV002017407; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916134549161345CT49161345-
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln)3913LAMB2Uncertain significance-1RCV001990478; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916136249161362CT49161362-
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)3913LAMB2Pathogenic-1RCV001783546|RCV001885163; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916136349161363GA49161363-
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)3913LAMB2Conflicting interpretations of pathogenicityrs138540017RCV000302099|RCV000340672|RCV000541504; NMONDO: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:267034916137649161376GANC_000003.11:g.49161376G>AClinGen:CA2394010C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3573T>C (p.His1191=)3913LAMB2Likely benignrs1343630379RCV000528905|RCV001406384; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916138549161385AGNC_000003.11:g.49161385A>GClinGen:CA433833623C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)3913LAMB2Uncertain significancers760892618RCV001049890; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916139849161398CT3:g.49161398C>T-
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val)3913LAMB2Uncertain significancers370877359RCV000548194|RCV001149697|RCV001149698; NMONDO: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:267034916141149161411TCNC_000003.11:g.49161411T>CClinGen:CA2394016C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His)3913LAMB2Likely benign-1RCV001497089; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916142549161425CT49161425-
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala)3913LAMB2Uncertain significancers765996794RCV001212817; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916143749161437TG3:g.49161437T>G-
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)3913LAMB2Conflicting interpretations of pathogenicityrs186771094RCV001145384|RCV001145383|RCV001522733; NMONDO: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:30650734916146049161460TC3:g.49161460T>C-
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His)3913LAMB2Uncertain significancers374189761RCV000811043; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916146449161464CT3:g.49161464C>T-
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys)3913LAMB2Uncertain significance-1RCV001363048; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916146549161465GA49161465-
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs)3913LAMB2Pathogenic-1RCV001985451; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916147549161481AGTGACCTA49161474-
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His)3913LAMB2Uncertain significancers766772811RCV000517526|RCV001303414; NMedGen:CN169374|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916148849161488CT3:g.49161488C>TClinGen:CA2394030CN169374 not specified;
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His)3913LAMB2Benignrs138774635RCV000539549|RCV001145385|RCV001145386|RCV001618730; NMONDO: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|M34916151549161515CT3:g.49161515C>TClinGen:CA2394036C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3442C>T (p.Arg1148Cys)3913LAMB2Uncertain significance-1RCV001904199; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916151649161516GA49161516-
NM_002292.4(LAMB2):c.3427T>C (p.Cys1143Arg)3913LAMB2Uncertain significance-1RCV001991894; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916153149161531AG49161531-
NM_002292.4(LAMB2):c.3425-7C>A3913LAMB2Uncertain significancers2045383891RCV001145387|RCV001145388; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916154049161540GT3:g.49161540G>T-
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp)3913LAMB2Uncertain significancers1404267963RCV001322841; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916163449161634AC49161634-
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=)3913LAMB2Benignrs34290943RCV000247774|RCV000390961|RCV000297332|RCV001512121|RCV001722308; NMedGen: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,O34916166049161660TC3:g.49161660T>CClinGen:CA2394052C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser)3913LAMB2Uncertain significancers199570781RCV000266674|RCV000361384|RCV000649521; NMONDO: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:MONDO34916169249161692CTNC_000003.11:g.49161692C>TClinGen:CA2394060C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3330C>G (p.Phe1110Leu)3913LAMB2Uncertain significance-1RCV001929173; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916171749161717GC49161717-
NM_002292.4(LAMB2):c.3327+8A>C3913LAMB2Likely benignrs756229789RCV000887746|RCV001454638; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916182049161820TG3:g.49161820T>G-
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys)3913LAMB2Benignrs79677861RCV000303115|RCV000357795|RCV000526940; NMONDO: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:267034916183049161830CTNC_000003.11:g.49161830C>TClinGen:CA2394089C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)3913LAMB2Uncertain significancers757491995RCV001147323|RCV001147322; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916183149161831GA3:g.49161831G>A-
NM_002292.4(LAMB2):c.3302G>A (p.Arg1101Gln)3913LAMB2Uncertain significance-1RCV001929856; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916185349161853CT49161853-
NM_002292.4(LAMB2):c.3294C>T (p.His1098=)3913LAMB2Likely benignrs376981766RCV000873855; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916186149161861GA3:g.49161861G>A-
NM_002292.4(LAMB2):c.3287C>A (p.Ala1096Asp)3913LAMB2Uncertain significance-1RCV001920928; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916186849161868GT49161868-
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)3913LAMB2Uncertain significancers369406683RCV001147325|RCV001147324; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916188249161882AG3:g.49161882A>G-
NM_002292.4(LAMB2):c.3241C>T (p.Pro1081Ser)3913LAMB2Uncertain significance-1RCV001935459; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916191449161914GA49161914-
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His)3913LAMB2Uncertain significance-1RCV001370595; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916192249161922CT49161922-
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)3913LAMB2Uncertain significancers753249251RCV001246143; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916193449161934GA3:g.49161934G>A-
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=)3913LAMB2Uncertain significancers886058673RCV000268878|RCV000382010; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916195749161957TCNC_000003.11:g.49161957T>CClinGen:CA10616925C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His)3913LAMB2Uncertain significancers1553778039RCV000550798; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916196349161963CGNC_000003.11:g.49161963C>GClinGen:CA352711502C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3177T>C (p.Asp1059=)3913LAMB2Likely benign-1RCV002110975; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916197849161978AG49161978-
NM_002292.4(LAMB2):c.3170A>G (p.His1057Arg)3913LAMB2Uncertain significance-1RCV001905332; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916198549161985TC49161985-
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del)3913LAMB2Uncertain significancers756027369RCV000809536; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916199649161998CAGGC3:g.49161996_49161998del-
NM_002292.4(LAMB2):c.3154T>C (p.Ser1052Pro)3913LAMB2Uncertain significance-1RCV001978054; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916200149162001AG49162001-
NM_002292.4(LAMB2):c.3141G>A (p.Pro1047=)3913LAMB2Likely benignrs373002075RCV000946134; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916201449162014CT3:g.49162014C>T-
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu)3913LAMB2Uncertain significancers758124972RCV001065195; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916201549162015GA3:g.49162015G>A-
NM_002292.4(LAMB2):c.3123C>A (p.Asn1041Lys)3913LAMB2Uncertain significance-1RCV001885841; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916203249162032GT49162032-
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser)3913LAMB2Uncertain significancers149560677RCV001057132; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916203749162037AT3:g.49162037A>T-
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro)3913LAMB2Uncertain significancers747604203RCV000333358|RCV000387637; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916204049162040TGNC_000003.11:g.49162040T>GClinGen:CA2394116C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3110-3C>T3913LAMB2Uncertain significancers2045390515RCV001325311; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916204849162048GA49162048-
NM_002292.4(LAMB2):c.3110-15T>C3913LAMB2Benign/Likely benignrs147446447RCV001148255|RCV001148256|RCV002070797|RCV001539650; NMONDO: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|M34916206049162060AG3:g.49162060A>G-
NM_002292.4(LAMB2):c.3110-20G>C3913LAMB2Likely benign-1RCV002174613; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916206549162065CG49162065-
NM_002292.4(LAMB2):c.3109+13G>C3913LAMB2Uncertain significancers750600086RCV001148257|RCV001148258; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916212149162121CG3:g.49162121C>G-
NM_002292.4(LAMB2):c.3109+1G>T3913LAMB2Likely pathogenicrs888830612RCV000612771; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916213349162133CANC_000003.11:g.49162133C>AClinGen:CA352712801C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.3109+1G>A3913LAMB2Likely pathogenic-1RCV001379904; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916213349162133CT49162133-
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys)3913LAMB2Uncertain significancers201159870RCV000533645; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916213449162134GA3:g.49162134G>AClinGen:CA74479947C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu)3913LAMB2Benign/Likely benignrs368506627RCV000293570|RCV000348428|RCV000558032|RCV001731620|RCV001516985; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C18334916217249162172GANC_000003.11:g.49162172G>AClinGen:CA2394132C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp)3913LAMB2Uncertain significancers780053995RCV000687121; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916218449162184GTNC_000003.11:g.49162184G>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3045G>A (p.Glu1015=)3913LAMB2Likely benignrs746638105RCV000904171|RCV001471049; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916219849162198CT3:g.49162198C>T-
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val)3913LAMB2Uncertain significancers1269838719RCV001351479; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916219949162199TA49162199-
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg)3913LAMB2Uncertain significancers2045392366RCV001235953; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916220549162205TC3:g.49162205T>C-
NM_002292.4(LAMB2):c.3036C>T (p.His1012=)3913LAMB2Uncertain significancers777538430RCV000280182|RCV000375029; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916220749162207GANC_000003.11:g.49162207G>AClinGen:CA10616926C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln)3913LAMB2Uncertain significancers777538430RCV000803954; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916220749162207GT3:g.49162207G>T-
NM_002292.4(LAMB2):c.3026G>A (p.Arg1009His)3913LAMB2Uncertain significance-1RCV001948385; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916221749162217CT49162217-
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)3913LAMB2Pathogenicrs1560072794RCV000015628; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916222849162228GCGNC_000003.11:g.49162231delOMIM:150325.0001
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr)3913LAMB2Uncertain significancers769328932RCV001318635; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916225949162259AG49162259-
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val)3913LAMB2Uncertain significancers773681564RCV001288663|RCV001871720; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916226049162260TC49162260-
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr)3913LAMB2Likely benignrs148732023RCV000875991; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916226849162268AG3:g.49162268A>G-
NM_002292.4(LAMB2):c.2974A>G (p.Ile992Val)3913LAMB2Likely benign-1RCV001433593; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916226949162269TC49162269-
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp)3913LAMB2Uncertain significancers146232955RCV001347205; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916228249162282CG49162282-
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys)3913LAMB2Benignrs34759087RCV000252417|RCV000335264|RCV000401038|RCV001512122|RCV001675717; NMedGen: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,O34916228449162284CT3:g.49162284C>TClinGen:CA2394153,UniProtKB:P55268#VAR_031971C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2957G>A (p.Cys986Tyr)3913LAMB2Uncertain significance-1RCV001892934; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916228649162286CT49162286-
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln)3913LAMB2Uncertain significancers149653966RCV000700025; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916229849162298CTNC_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)3913LAMB2Uncertain significance-1RCV001905548; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916229949162299GA49162299-
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg)3913LAMB2Uncertain significancers1575532774RCV000796533; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916230749162307GC3:g.49162307G>C-
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)3913LAMB2Conflicting interpretations of pathogenicityrs145465720RCV000304855|RCV000341133|RCV000537395; NMONDO: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:267034916232149162321CGNC_000003.11:g.49162321C>GClinGen:CA2394163C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser)3913LAMB2Uncertain significancers1271329821RCV001207856; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916233549162335GA3:g.49162335G>A-
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr)3913LAMB2Uncertain significancers771183113RCV001220584; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916234049162340CT3:g.49162340C>T-
NM_002292.4(LAMB2):c.2891G>A (p.Arg964Gln)3913LAMB2Uncertain significance-1RCV001880897; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916235249162352CT49162352-
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)3913LAMB2Pathogenicrs730880125RCV000157282; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916235349162353GANC_000003.11:g.49162353G>AClinGen:CA346413C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.2885-8G>A3913LAMB2Likely benignrs374181186RCV000945347|RCV001410353; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916236649162366CT3:g.49162366C>T-
NM_002292.4(LAMB2):c.2884+15del3913LAMB2Uncertain significancers769133638RCV000310830|RCV000392693; NMONDO: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:MONDO34916242449162424GCGNC_000003.11:g.49162428delClinGen:CA2394182C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2883G>C (p.Thr961=)3913LAMB2Uncertain significance-1RCV002009965; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916244049162440CG49162440-
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln)3913LAMB2Uncertain significancers764846938RCV001149813|RCV001149812; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916245349162453CT3:g.49162453C>T-
NM_002292.4(LAMB2):c.2869C>T (p.Arg957Trp)3913LAMB2Uncertain significance-1RCV001880411; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916245449162454GA49162454-
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp)3913LAMB2Uncertain significancers1376202280RCV000816675; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916246149162461GC3:g.49162461G>C-
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe)3913LAMB2Uncertain significancers146962414RCV001236692; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916246949162469TA3:g.49162469T>A-
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val)3913LAMB2Uncertain significancers753039246RCV001296476; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916248349162483TA49162483-
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln)3913LAMB2Uncertain significancers201235061RCV000365545|RCV000392703; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916251349162513CTNC_000003.11:g.49162513C>TClinGen:CA2394201C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg)3913LAMB2Uncertain significancers2045396597RCV001145477|RCV001145478; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916252549162525GC3:g.49162525G>C-
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln)3913LAMB2Uncertain significancers536235346RCV001145479|RCV001145480|RCV001858953; NMONDO: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:30650734916254949162549CT3:g.49162549C>T-
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp)3913LAMB2Uncertain significancers190191113RCV001314664; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916255049162550GA49162550-
NM_002292.4(LAMB2):c.2754G>T (p.Leu918=)3913LAMB2Likely benign-1RCV001401468; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916256949162569CA49162569-
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp)3913LAMB2Uncertain significancers754155232RCV001305670; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916257449162574GA49162574-
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)3913LAMB2Benignrs35713889RCV000247257|RCV000307336|RCV000371274|RCV000712177|RCV000556669; NMedGen: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:C3280134916258349162583CTNC_000003.11:g.49162583C>TClinGen:CA2394217C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2727T>C (p.Ile909=)3913LAMB2Likely benignrs376904255RCV000878546|RCV001503651; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916259649162596AG3:g.49162596A>G-
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr)3913LAMB2Uncertain significancers201756319RCV000649520; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916259749162597AG3:g.49162597A>GClinGen:CA2394222C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2724C>T (p.Cys908=)3913LAMB2Likely benignrs142012138RCV000545837; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916259949162599GA3:g.49162599G>AClinGen:CA2394224C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2721-10C>T3913LAMB2Likely benign-1RCV002182063; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916261249162612GA49162612-
NM_002292.4(LAMB2):c.2720+13C>A3913LAMB2Uncertain significancers369359244RCV000276749|RCV000331713; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916267349162673GTNC_000003.11:g.49162673G>TClinGen:CA2394237C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2720+11A>G3913LAMB2Likely benign-1RCV002168137; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916267549162675TC49162675-
NM_002292.4(LAMB2):c.2711A>G (p.His904Arg)3913LAMB2Uncertain significance-1RCV001873060; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916269549162695TC49162695-
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala)3913LAMB2Uncertain significancers781530275RCV001297352; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916270449162704CG49162704-
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His)3913LAMB2Uncertain significancers375392013RCV001337992; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916271649162716CT49162716-
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)3913LAMB2Benignrs144092322RCV000242465|RCV001079800|RCV001147425|RCV001147424|RCV000712176; NMedGen: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,O34916273349162733GA3:g.49162733G>AClinGen:CA2394253C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)3913LAMB2Benign/Likely benignrs527639885RCV000712175|RCV001088198; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916273749162737GANC_000003.11:g.49162737G>A-
NM_002292.4(LAMB2):c.2661C>A (p.Asn887Lys)3913LAMB2Uncertain significance-1RCV001944776; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916274549162745GT49162745-
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile)3913LAMB2Uncertain significancers376553423RCV000797285; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916274649162746TA3:g.49162746T>A-
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr)3913LAMB2Uncertain significance-1RCV001938403; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916276249162762GA49162762-
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser)3913LAMB2Uncertain significancers781619412RCV001147426|RCV001147427|RCV001858967; NMONDO: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:30650734916276749162767TC3:g.49162767T>C-
NM_002292.4(LAMB2):c.2630G>T (p.Cys877Phe)3913LAMB2Uncertain significance-1RCV001992695; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916277649162776CA49162776-
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser)3913LAMB2Uncertain significancers200108816RCV001235190; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916278049162780GA3:g.49162780G>A-
NM_002292.4(LAMB2):c.2611T>C (p.Phe871Leu)3913LAMB2Uncertain significance-1RCV002023833; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916279549162795AG49162795-
NM_002292.4(LAMB2):c.2597G>C (p.Arg866Pro)3913LAMB2Uncertain significance-1RCV002035083; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916280949162809CG49162809-
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)3913LAMB2Uncertain significancers146326783RCV000802733; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916281849162818CT3:g.49162818C>T-
NM_002292.4(LAMB2):c.2579G>A (p.Arg860His)3913LAMB2Uncertain significancers768251178RCV001316083; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916282749162827CT49162827-
NM_002292.4(LAMB2):c.2578C>T (p.Arg860Cys)3913LAMB2Uncertain significance-1RCV001969251; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916282849162828GA49162828-
NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu)3913LAMB2Uncertain significancers774703538RCV001339231; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916284849162848CA49162848-
NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln)3913LAMB2Uncertain significance-1RCV001363946; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916284849162848CT49162848-
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)3913LAMB2Uncertain significancers950013669RCV001060206; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916288549162885TG3:g.49162885T>G-
NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val)3913LAMB2Uncertain significance-1RCV001907409; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916289349162893GA49162893-
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg)3913LAMB2Uncertain significance-1RCV001372535; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916289749162897CT49162897-
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys)3913LAMB2Uncertain significancers547498421RCV001147429|RCV001147428; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916290049162900CT3:g.49162900C>T-
NM_002292.4(LAMB2):c.2505C>T (p.His835=)3913LAMB2Benignrs752783113RCV000876433|RCV001514569; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916290149162901GA3:g.49162901G>A-
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val)3913LAMB2Uncertain significancers2045403063RCV001226903; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916291749162917GA3:g.49162917G>A-
NM_002292.4(LAMB2):c.2489-7C>T3913LAMB2Conflicting interpretations of pathogenicityrs374958213RCV000878392|RCV001148353|RCV001148354; NMONDO: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:30650734916292449162924GA3:g.49162924G>A-
NM_002292.4(LAMB2):c.2488+6C>G3913LAMB2Uncertain significancers371384656RCV001201621; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916317449163174GC3:g.49163174G>C-
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=)3913LAMB2Likely benignrs1575533579RCV000982041; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916319349163193GA3:g.49163193G>A-
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)3913LAMB2Uncertain significancers775759513RCV001228578; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916319849163198CT3:g.49163198C>T-
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe)3913LAMB2Uncertain significancers746761674RCV000263746|RCV000367736|RCV001850832; NMONDO: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:267034916320949163209TANC_000003.11:g.49163209T>AClinGen:CA2394298C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His)3913LAMB2Uncertain significancers886058674RCV000318898|RCV000372768|RCV001850833; NMONDO: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:267034916323349163233CT3:g.49163233C>TClinGen:CA10616338C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys)3913LAMB2Uncertain significancers151134957RCV000557096; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916323449163234GA3:g.49163234G>AClinGen:CA2394301C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2433C>T (p.Arg811=)3913LAMB2Likely benign-1RCV001426797; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916323549163235GA49163235-
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)3913LAMB2Uncertain significancers201223945RCV001071566; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916323649163236CT3:g.49163236C>T-
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val)3913LAMB2Uncertain significancers200740666RCV000810808; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916324849163248CA3:g.49163248C>A-
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro)3913LAMB2Uncertain significance-1RCV001367797; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916326049163260AG49163260-
NM_002292.4(LAMB2):c.2364_2393del (p.Gln788_Pro797del)3913LAMB2Uncertain significance-1RCV002039449; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916327549163304ATGAGGGTTGCACTCAGAACTCAGTGAACCTA49163274-
NM_002292.4(LAMB2):c.2373G>A (p.Leu791=)3913LAMB2Likely benignrs1478443594RCV000912821; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916329549163295CT3:g.49163295C>T-
NM_002292.4(LAMB2):c.2344+14A>T3913LAMB2Likely benign-1RCV002161228; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916338649163386TA49163386-
NM_002292.4(LAMB2):c.2339C>T (p.Ala780Val)3913LAMB2Uncertain significance-1RCV002005399; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916340549163405GA49163405-
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp)3913LAMB2Uncertain significancers200858061RCV000823720; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916340849163408CT3:g.49163408C>T-
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys)3913LAMB2Uncertain significancers772581224RCV000803313; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916341449163414TC3:g.49163414T>C-
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)3913LAMB2Conflicting interpretations of pathogenicityrs142116851RCV000278236|RCV000324025|RCV000875623; NMONDO: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:267034916342249163422GC3:g.49163422G>CClinGen:CA2394334C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)3913LAMB2Conflicting interpretations of pathogenicityrs147076626RCV000250277|RCV000544546|RCV001149917|RCV001149918|RCV001699089; NMedGen: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:60904934916343749163437GA3:g.49163437G>AClinGen:CA2394336C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val)3913LAMB2Uncertain significancers773407518RCV000687433; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916344749163447GANC_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)3913LAMB2Uncertain significancers763101025RCV001149920|RCV001149919; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916344849163448CT3:g.49163448C>T-
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)3913LAMB2Uncertain significancers201289156RCV000284173|RCV000378625; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916344949163449GA3:g.49163449G>AClinGen:CA2394342C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr)3913LAMB2Uncertain significance-1RCV001954171; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916345449163454CT49163454-
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro)3913LAMB2Uncertain significancers752188860RCV001315708; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916346049163460AG49163460-
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg)3913LAMB2Uncertain significancers143405268RCV000699402|RCV001312021; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN51720234916347349163473GTNC_000003.11:g.49163473G>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu)3913LAMB2Uncertain significancers1560073886RCV000702150; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916348149163481CGNC_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=)3913LAMB2Uncertain significancers756931255RCV001149922|RCV001149921; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916348249163482CT3:g.49163482C>T-
NM_002292.4(LAMB2):c.2258G>T (p.Gly753Val)3913LAMB2Uncertain significance-1RCV002036906; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916348649163486CA49163486-
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His)3913LAMB2Uncertain significancers141407145RCV001049284; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916350749163507CT3:g.49163507C>T-
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys)3913LAMB2Uncertain significancers200658738RCV000532494; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916350849163508GA3:g.49163508G>AClinGen:CA2394352C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu)3913LAMB2Uncertain significancers781721930RCV001065123; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916352549163525CA3:g.49163525C>A-
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His)3913LAMB2Uncertain significancers781721930RCV001145583|RCV001145582; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916352549163525CT3:g.49163525C>T-
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys)3913LAMB2Uncertain significancers748798004RCV000804935; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916352649163526GA3:g.49163526G>A-
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys)3913LAMB2Uncertain significance-1RCV002023385; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916355849163558AT49163558-
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val)3913LAMB2Uncertain significancers760463111RCV000794050; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916356549163565GC3:g.49163565G>C-
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe)3913LAMB2Uncertain significancers1466437719RCV001213488; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916357449163574CA3:g.49163574C>A-
NM_002292.4(LAMB2):c.2168G>A (p.Arg723His)3913LAMB2Uncertain significancers542505535RCV001207742; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916357649163576CT3:g.49163576C>T-
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys)3913LAMB2Uncertain significancers145660751RCV000998076|RCV001242837; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916357749163577GA3:g.49163577G>A-
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)3913LAMB2Uncertain significancers764955129RCV001215883; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916357949163579GT3:g.49163579G>T-
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=)3913LAMB2Uncertain significancers886058675RCV000339182|RCV000398932; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916359049163590CT3:g.49163590C>TClinGen:CA10616932C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=)3913LAMB2Conflicting interpretations of pathogenicityrs756535650RCV000245548|RCV000794720; NMedGen:CN169374|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916359249163592GANC_000003.11:g.49163592G>AClinGen:CA2394372CN169374 not specified;
NM_002292.4(LAMB2):c.2152-5T>C3913LAMB2Likely benign-1RCV001490603; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916359749163597AG49163597-
NM_002292.4(LAMB2):c.2152-14G>A3913LAMB2Likely benign-1RCV002179279; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916360649163606CT49163606-
NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu)3913LAMB2Uncertain significance-1RCV001972292; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916379949163799GA49163799-
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala)3913LAMB2Uncertain significancers142860588RCV000806465; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916385049163850CG3:g.49163850C>G-
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)3913LAMB2Conflicting interpretations of pathogenicityrs142860588RCV000877262|RCV001145585|RCV001145584; NMONDO: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:267034916385049163850CT3:g.49163850C>T-
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg)3913LAMB2Benignrs28364667RCV000873014|RCV001145587|RCV001145586; NMONDO: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:30650734916385449163854CG3:g.49163854C>G-
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro)3913LAMB2Uncertain significancers369063535RCV001223845; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916385749163857TG3:g.49163857T>G-
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln)3913LAMB2Uncertain significance-1RCV001998215; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916385949163859CT49163859-
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)3913LAMB2Uncertain significancers149304508RCV001145698|RCV001145699|RCV001317209; NMONDO: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:30650734916386049163860GA3:g.49163860G>A-
NM_002292.4(LAMB2):c.2068A>C (p.Lys690Gln)3913LAMB2Uncertain significance-1RCV001975526; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916388149163881TG49163881-
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter)3913LAMB2Pathogenicrs121912489RCV000015631|RCV000735771; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916388249163882GC3:g.49163882G>CClinGen:CA124108,OMIM:150325.0004C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met)3913LAMB2Uncertain significancers912735454RCV000812324; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916388849163888GC3:g.49163888G>C-
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu)3913LAMB2Uncertain significancers373260991RCV000806839; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916392049163920AG3:g.49163920A>G-
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=)3913LAMB2Uncertain significancers748124251RCV001215099; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916393049163930CT3:g.49163930C>T-
NM_002292.4(LAMB2):c.2019-5C>T3913LAMB2Likely benign-1RCV002205620; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916393549163935GA49163935-
NM_002292.4(LAMB2):c.2019-8G>A3913LAMB2Likely benignrs377396194RCV000874490; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916393849163938CT3:g.49163938C>T-
NM_002292.4(LAMB2):c.2018+8C>A3913LAMB2Likely benignrs1553778611RCV000649526; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916588349165883GT3:g.49165883G>TClinGen:CA658796318C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1980G>A (p.Lys660=)3913LAMB2Uncertain significance-1RCV001976518; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916592949165929CT49165929-
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=)3913LAMB2Uncertain significancers777566654RCV001326914; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916593849165938CT49165938-
NM_002292.4(LAMB2):c.1965G>T (p.Gly655=)3913LAMB2Likely benign-1RCV002219454; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916594449165944CA49165944-
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp)3913LAMB2Uncertain significance-1RCV001975828; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916596049165960GT49165960-
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs)3913LAMB2Pathogenic-1RCV001950798; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916597449165975TTG49165974-
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His)3913LAMB2Uncertain significancers200738080RCV000699671; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916597849165978CT3:g.49165978C>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys)3913LAMB2Uncertain significancers766396792RCV001208071; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916597949165979GA3:g.49165979G>A-
NM_002292.4(LAMB2):c.1891-10G>A3913LAMB2Likely benignrs746381319RCV000649523; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916602849166028CTNC_000003.11:g.49166028C>TClinGen:CA2394461C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1891-11C>T3913LAMB2Likely benignrs778444207RCV000241958|RCV002058106; NMedGen:CN169374|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916602949166029GANC_000003.11:g.49166029G>AClinGen:CA2394462CN169374 not specified;
NM_002292.4(LAMB2):c.1890+25G>A3913LAMB2Benign-1RCV001654730|RCV001730907; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916606949166069CT49166069-
NM_002292.4(LAMB2):c.1890+19A>C3913LAMB2Likely benign-1RCV002168395; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916607549166075TG49166075-
NM_002292.4(LAMB2):c.1890+9C>T3913LAMB2Likely benignrs1575535180RCV000926264; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916608549166085GA3:g.49166085G>A-
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)3913LAMB2Uncertain significancers148491867RCV001057551; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916609849166098GA3:g.49166098G>A-
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln)3913LAMB2Uncertain significancers763825655RCV001232873; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916610249166102CG3:g.49166102C>G-
NM_002292.4(LAMB2):c.1877G>A (p.Arg626His)3913LAMB2Uncertain significance-1RCV002026524; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916610749166107CT49166107-
NM_002292.4(LAMB2):c.1862A>G (p.Tyr621Cys)3913LAMB2Uncertain significance-1RCV001928809; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916612249166122TC49166122-
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=)3913LAMB2Uncertain significancers1131791RCV000692680; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916613349166133CTNC_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=)3913LAMB2Uncertain significancers886058676RCV000289973|RCV000345119; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916615349166153GA3:g.49166153G>AClinGen:CA10616339C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln)3913LAMB2Uncertain significancers888403715RCV001348777; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916615949166159CG49166159-
NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln)3913LAMB2Uncertain significance-1RCV001957480; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916618249166182CT49166182-
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)3913LAMB2Conflicting interpretations of pathogenicityrs376785056RCV001145700|RCV001145701|RCV001486611; NMONDO: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:30650734916618749166187GA3:g.49166187G>A-
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro)3913LAMB2Uncertain significance-1RCV001864434; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916619549166195AG49166195-
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys)3913LAMB2Uncertain significancers1405443471RCV000820300; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916621649166216CT3:g.49166216C>T-
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)3913LAMB2Benignrs33942096RCV000250265|RCV000314824|RCV000407745|RCV000556287|RCV001610623; NMedGen: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,O34916622049166220GANC_000003.11:g.49166220G>AClinGen:CA2394499C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)3913LAMB2Uncertain significancers144324168RCV001209943; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916622249166222GC3:g.49166222G>C-
NM_002292.4(LAMB2):c.1752C>G (p.Arg584=)3913LAMB2Likely benign-1RCV002154524; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916623249166232GC49166232-
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)3913LAMB2Uncertain significancers369408727RCV000695825|RCV001148459|RCV001148460; NMONDO: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:267034916623449166234GT3:g.49166234G>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys)3913LAMB2Uncertain significance-1RCV001909230; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916623449166234GA49166234-
NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn)3913LAMB2Uncertain significance-1RCV002042747; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916624649166246CT49166246-
NM_002292.4(LAMB2):c.1731+16del3913LAMB2Benign-1RCV002073478; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916643749166437AGA49166436-
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln)3913LAMB2Benignrs61729152RCV000245118|RCV000539161|RCV001148461|RCV001148462; NMedGen: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:60904934916646049166460CT3:g.49166460C>TClinGen:CA2394524C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=)3913LAMB2Likely benign-1RCV002193515; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916650149166501CA49166501-
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp)3913LAMB2Uncertain significancers748395355RCV001051246; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916650349166503GA3:g.49166503G>A-
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His)3913LAMB2Uncertain significancers2045453433RCV001203244; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916651649166516TG3:g.49166516T>G-
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg)3913LAMB2Uncertain significancers2045454131RCV001342250; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916653049166530AG49166530-
NM_002292.4(LAMB2):c.1651C>T (p.Arg551Cys)3913LAMB2Uncertain significancers766282298RCV001261431|RCV001880020; N|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916653349166533GA3:g.49166533G>A-
NM_002292.4(LAMB2):c.1614A>T (p.Thr538=)3913LAMB2Likely benign-1RCV001405993; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916657049166570TA49166570-
NM_002292.4(LAMB2):c.1575C>T (p.Asp525=)3913LAMB2Likely benign-1RCV002157834; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916670149166701GA49166701-
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn)3913LAMB2Uncertain significancers200694459RCV000796651; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916670349166703CT3:g.49166703C>T-
NM_002292.4(LAMB2):c.1572C>T (p.Cys524=)3913LAMB2Likely benignrs111883392RCV000253315|RCV000874920; NMedGen:CN169374|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916670449166704GANC_000003.11:g.49166704G>AClinGen:CA2394557CN169374 not specified;
NM_002292.4(LAMB2):c.1569C>T (p.Asp523=)3913LAMB2Likely benignrs1169038040RCV000902870|RCV001416599; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916670749166707GA3:g.49166707G>A-
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)3913LAMB2Likely pathogenic-1RCV001535880; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916671249166712CAC49166711-
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His)3913LAMB2Uncertain significancers148333147RCV000800776; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916671749166717CT3:g.49166717C>T-
NM_002292.4(LAMB2):c.1558C>T (p.Arg520Cys)3913LAMB2Uncertain significance-1RCV002047255; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916671849166718GA49166718-
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser)3913LAMB2Uncertain significance-1RCV001366985; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916672449166724CT49166724-
NM_002292.4(LAMB2):c.1551C>T (p.Leu517=)3913LAMB2Likely benign-1RCV001428662; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916672549166725GA49166725-
NM_002292.4(LAMB2):c.1543G>A (p.Asp515Asn)3913LAMB2Uncertain significance-1RCV001940528; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916673349166733CT49166733-
NM_002292.4(LAMB2):c.1542C>T (p.His514=)3913LAMB2Likely benignrs150783390RCV000874026|RCV001492576; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916673449166734GA3:g.49166734G>A-
NM_002292.4(LAMB2):c.1519-5T>C3913LAMB2Likely benign-1RCV002075160; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916676249166762AG49166762-
NM_002292.4(LAMB2):c.1519-6G>A3913LAMB2Likely benign-1RCV001457763; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916676349166763CT49166763-
NM_002292.4(LAMB2):c.1518+5G>A3913LAMB2Uncertain significancers768311062RCV001247090|RCV001760285; NMONDO: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:267034916703249167032CT3:g.49167032C>T-
NM_002292.4(LAMB2):c.1518+4C>T3913LAMB2Uncertain significancers902115828RCV001064794; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916703349167033GA3:g.49167033G>A-
NM_002292.4(LAMB2):c.1518+3G>A3913LAMB2Uncertain significance-1RCV002047059; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916703449167034CT49167034-
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His)3913LAMB2Uncertain significancers759499306RCV001148463|RCV001148464; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916705649167056CT3:g.49167056C>T-
NM_002292.4(LAMB2):c.1498C>T (p.Arg500Cys)3913LAMB2Uncertain significance-1RCV001991246; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916705749167057GA49167057-
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer)3913LAMB2Likely pathogenic-1RCV001808932; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916706749167067CTC49167066-
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)3913LAMB2Pathogenicrs969481454RCV001052120; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916707849167078CAC3:g.49167078_49167078del-
NM_002292.4(LAMB2):c.1446T>C (p.Thr482=)3913LAMB2Likely benignrs778631081RCV000923833|RCV001477744; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916710949167109AG3:g.49167109A>G-
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn)3913LAMB2Uncertain significancers144230655RCV000531143|RCV000762116|RCV001148466|RCV001148465; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:60904934916711349167113CTNC_000003.11:g.49167113C>TClinGen:CA2394589C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp)3913LAMB2Uncertain significancers144487632RCV000369480|RCV000407732; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916713249167132GA3:g.49167132G>AClinGen:CA2394591C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=)3913LAMB2Likely benignrs201408584RCV000877038|RCV001417009; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916713349167133TG3:g.49167133T>G-
NM_002292.4(LAMB2):c.1414T>C (p.Cys472Arg)3913LAMB2Uncertain significance-1RCV001977038; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916714149167141AG49167141-
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln)3913LAMB2Uncertain significancers1166721867RCV000796393; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916714949167149CT3:g.49167149C>T-
NM_002292.4(LAMB2):c.1405+9C>T3913LAMB2Likely benign-1RCV001393102; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916726349167263GA49167263-
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln)3913LAMB2Uncertain significancers572289637RCV000707574; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916727449167274CTNC_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)3913LAMB2Uncertain significance-1RCV001876686; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916728149167283CCCAC49167280-
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=)3913LAMB2Likely benign-1RCV002176637; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916728549167285AT49167285-
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)3913LAMB2Conflicting interpretations of pathogenicityrs188487818RCV000890553|RCV001150039|RCV001150040; NMONDO: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:267034916728649167286CT3:g.49167286C>T-
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs)3913LAMB2Pathogenic-1RCV002002466; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916728649167287CCT49167286-
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His)3913LAMB2Uncertain significancers1428596182RCV000554413; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916731949167319CTNC_000003.11:g.49167319C>TClinGen:CA352740820C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys)3913LAMB2Uncertain significancers765252703RCV000311391|RCV000356877|RCV000807174; NMONDO: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:267034916732049167320GANC_000003.11:g.49167320G>AClinGen:CA2394625C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg)3913LAMB2Uncertain significancers1575535913RCV000803997; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916732549167325TC3:g.49167325T>C-
NM_002292.4(LAMB2):c.1329T>C (p.His443=)3913LAMB2Likely benign-1RCV002090745; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916734849167348AG49167348-
NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr)3913LAMB2Uncertain significance-1RCV001879676; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916735049167350GA49167350-
NM_002292.4(LAMB2):c.1311G>A (p.Gln437=)3913LAMB2Likely benignrs754837577RCV000915227|RCV001394466; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916736649167366CT3:g.49167366C>T-
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)3913LAMB2Conflicting interpretations of pathogenicityrs142402808RCV000658961|RCV001087289|RCV001150041|RCV001150042; NMedGen:CN517202|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,O34916737149167371CT3:g.49167371C>T-CN517202 not provided;
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=)3913LAMB2Conflicting interpretations of pathogenicityrs144530798RCV000874254|RCV001143915|RCV001143914; NMONDO: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:267034916737249167372GA3:g.49167372G>A-
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu)3913LAMB2Uncertain significancers770637532RCV001230732; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916739349167393GT3:g.49167393G>T-
NM_002292.4(LAMB2):c.1276del (p.His426fs)3913LAMB2Pathogenic-1RCV001536030; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916740149167401TGT49167400-
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser)3913LAMB2Uncertain significancers762273762RCV001055370; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916741649167416CT3:g.49167416C>T-
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu)3913LAMB2Uncertain significancers146643686RCV001242610; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916742049167420GT3:g.49167420G>T-
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs)3913LAMB2Pathogenic-1RCV001951019; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916743449167435TTGG49167434-
NM_002292.4(LAMB2):c.1226-5G>A3913LAMB2Benignrs545564814RCV000875015|RCV002064789; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916745649167456CT3:g.49167456C>T-
NM_002292.4(LAMB2):c.1222C>T (p.Arg408Cys)3913LAMB2Uncertain significance-1RCV001922986; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916766749167667GA49167667-
NM_002292.4(LAMB2):c.1222C>A (p.Arg408Ser)3913LAMB2Uncertain significance-1RCV001960819; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916766749167667GT49167667-
NM_002292.4(LAMB2):c.1218G>A (p.Val406=)3913LAMB2Likely benignrs1284533242RCV000932320|RCV001443583; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916767149167671CT3:g.49167671C>T-
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu)3913LAMB2Uncertain significance-1RCV001363420; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916767849167678GA49167678-
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)3913LAMB2Conflicting interpretations of pathogenicityrs201999373RCV000245018|RCV000262149|RCV000316156|RCV000875473; NMedGen: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,O34916768349167683CTNC_000003.11:g.49167683C>TClinGen:CA2394669C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val)3913LAMB2Uncertain significancers148956392RCV001244835; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916768849167688GC3:g.49167688G>C-
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg)3913LAMB2Uncertain significance-1RCV001372634; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916769349167693TC49167693-
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile)3913LAMB2Benignrs77500937RCV000254453|RCV000266745|RCV000361449|RCV000712174|RCV001087814; NMedGen: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:C3280134916769649167696GA3:g.49167696G>AClinGen:CA2394675C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.1183C>G (p.Arg395Gly)3913LAMB2Uncertain significance-1RCV002025358; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916770649167706GC49167706-
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln)3913LAMB2Uncertain significancers151276385RCV001299242; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916772049167720CT49167720-
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter)3913LAMB2Pathogenicrs121912490RCV000015632; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916776749167767AT3:g.49167767A>TClinGen:CA124110,OMIM:150325.0005C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.1082C>T (p.Ala361Val)3913LAMB2Uncertain significance-1RCV001949930; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916780749167807GA49167807-
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=)3913LAMB2Likely benignrs765736533RCV000928789|RCV002066079; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916781549167815GA3:g.49167815G>A-
NM_002292.4(LAMB2):c.1068C>T (p.Cys356=)3913LAMB2Likely benign-1RCV002088261; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916782149167821GA49167821-
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg)3913LAMB2Uncertain significancers1308318910RCV001207505; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916818649168186AT3:g.49168186A>T-
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr)3913LAMB2Uncertain significancers903919410RCV000799175; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916819149168191GA3:g.49168191G>A-
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)3913LAMB2Uncertain significancers376294474RCV001045616|RCV001562080; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN51720234916819449168194CT3:g.49168194C>T-
NM_002292.4(LAMB2):c.1014C>T (p.Asp338=)3913LAMB2Likely benignrs150731491RCV000908335; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916819549168195GA3:g.49168195G>A-
NM_002292.4(LAMB2):c.1000C>A (p.Arg334Ser)3913LAMB2Uncertain significance-1RCV001906540; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916820949168209GT49168209-
NM_002292.4(LAMB2):c.991C>T (p.Leu331=)3913LAMB2Uncertain significancers561241970RCV000321885|RCV000376445; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916821849168218GANC_000003.11:g.49168218G>AClinGen:CA2394734C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)3913LAMB2Conflicting interpretations of pathogenicityrs2045472442RCV001261592|RCV001557926; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MedGen:CN51720234916823949168239AG3:g.49168239A>G-
NM_002292.4(LAMB2):c.951T>A (p.Arg317=)3913LAMB2Likely benignrs755050242RCV000952478; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916825849168258AT3:g.49168258A>T-
NM_002292.4(LAMB2):c.950G>A (p.Arg317His)3913LAMB2Uncertain significance-1RCV002001541; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916825949168259CT49168259-
NM_002292.4(LAMB2):c.938A>G (p.Lys313Arg)3913LAMB2Uncertain significance-1RCV001879270; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916827149168271TC49168271-
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg)3913LAMB2Uncertain significancers774169261RCV000649519; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916828749168287CT3:g.49168287C>TClinGen:CA2394748C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.918G>T (p.Val306=)3913LAMB2Likely benign-1RCV001990749; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916829149168291CA49168291-
NM_002292.4(LAMB2):c.916-4A>G3913LAMB2Uncertain significancers886058677RCV000291268|RCV000327689; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916829749168297TCNC_000003.11:g.49168297T>CClinGen:CA10616343C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.915+16C>T3913LAMB2Likely benign-1RCV002108613; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916836749168367GA49168367-
NM_002292.4(LAMB2):c.915+6G>A3913LAMB2Conflicting interpretations of pathogenicityrs2071677RCV000873653|RCV001145808|RCV001145809; NMONDO: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:267034916837749168377CT3:g.49168377C>T-
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr)3913LAMB2Uncertain significancers199794467RCV000728760|RCV001041576; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916838449168384AGNC_000003.11:g.49168384A>G-
NM_002292.4(LAMB2):c.903T>A (p.His301Gln)3913LAMB2Uncertain significancers565877727RCV001304306; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916839549168395AT49168395-
NM_002292.4(LAMB2):c.900C>T (p.Ala300=)3913LAMB2Likely benign-1RCV002179244; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916839849168398GA49168398-
NM_002292.4(LAMB2):c.891G>A (p.Gly297=)3913LAMB2Likely benign-1RCV002123573; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916840749168407CT49168407-
NM_002292.4(LAMB2):c.889G>A (p.Gly297Arg)3913LAMB2Uncertain significance-1RCV001912220; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916840949168409CT49168409-
NM_002292.4(LAMB2):c.881C>A (p.Pro294His)3913LAMB2Uncertain significance-1RCV001924026; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916841749168417GT49168417-
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly)3913LAMB2Uncertain significancers757452525RCV001327471|RCV001773658; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MedGen:CN51720234916842649168426TC49168426-
NM_002292.4(LAMB2):c.864C>T (p.His288=)3913LAMB2Likely benign-1RCV002082358; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916843449168434GA49168434-
NM_002292.4(LAMB2):c.824A>C (p.Tyr275Ser)3913LAMB2Uncertain significance-1RCV001987058; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916847449168474TG49168474-
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)3913LAMB2Conflicting interpretations of pathogenicityrs151251039RCV000287600|RCV000382224|RCV000529365|RCV001795964; NMONDO: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|M34916848249168482AGNC_000003.11:g.49168482A>GClinGen:CA2394793C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln)3913LAMB2Uncertain significance-1RCV001754580|RCV001882887; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916849849168498CT49168498-
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)3913LAMB2Conflicting interpretations of pathogenicityrs375953746RCV000951442|RCV001145811|RCV001145810; NMONDO: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:267034916850349168503CT3:g.49168503C>T-
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala)3913LAMB2Uncertain significancers903021924RCV000791624; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916850449168504TG3:g.49168504T>G-
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp)3913LAMB2Uncertain significancers200316162RCV001295481; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916851149168511GA49168511-
NM_002292.4(LAMB2):c.763T>C (p.Leu255=)3913LAMB2Likely benign-1RCV002174355; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916853549168535AG49168535-
NM_002292.4(LAMB2):c.762G>A (p.Thr254=)3913LAMB2Likely benign-1RCV002185147; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916853649168536CT49168536-
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala)3913LAMB2Uncertain significancers747693090RCV000351917|RCV000402403; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916855849168558AGNC_000003.11:g.49168558A>GClinGen:CA2394807C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)3913LAMB2Likely pathogenicrs121912488RCV000015629|RCV001335017|RCV001849266; NMONDO: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 Ont34916856249168562GA3:g.49168562G>AClinGen:CA124107,UniProtKB:P55268#VAR_031969,OMIM:150325.0002C1836876 609049 Pierson syndrome;
NM_002292.4(LAMB2):c.713-3C>T3913LAMB2Uncertain significancers775876911RCV000649525; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916858849168588GA3:g.49168588G>AClinGen:CA2394811C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.713-7G>A3913LAMB2Likely benignrs200186640RCV000649527; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916859249168592CT3:g.49168592C>TClinGen:CA2394812C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.713-9_713-8del3913LAMB2Likely benign-1RCV002094121; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916859349168594CGGC49168592-
NM_002292.4(LAMB2):c.712+14C>T3913LAMB2Likely benign-1RCV002093389; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916879849168798GA49168798-
NM_002292.4(LAMB2):c.704G>T (p.Arg235Leu)3913LAMB2Uncertain significance-1RCV001939272; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916882049168820CA49168820-
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)3913LAMB2Conflicting interpretations of pathogenicityrs144133177RCV000876120|RCV001088975; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916882149168821GA3:g.49168821G>A-
NM_002292.4(LAMB2):c.701C>T (p.Ser234Leu)3913LAMB2Uncertain significance-1RCV001939047; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916882349168823GA49168823-
NM_002292.4(LAMB2):c.696C>T (p.Tyr232=)3913LAMB2Likely benign-1RCV002173944; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916882849168828GA49168828-
NM_002292.4(LAMB2):c.690C>T (p.Asp230=)3913LAMB2Likely benign-1RCV002099840; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916883449168834GA49168834-
NM_002292.4(LAMB2):c.661G>A (p.Val221Met)3913LAMB2Uncertain significancers748711014RCV000692610; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916886349168863CT3:g.49168863C>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu)3913LAMB2Uncertain significancers748711014RCV001322069; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916886349168863CA49168863-
NM_002292.4(LAMB2):c.648+19G>T3913LAMB2Likely benign-1RCV002157776; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916894949168949CA49168949-
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys)3913LAMB2Uncertain significancers368339529RCV000693061; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916897049168970CTNC_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=)3913LAMB2Likely benign-1RCV002118375; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916898049168980GC49168980-
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr)3913LAMB2Uncertain significancers1575537041RCV000802331; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916901149169011CT3:g.49169011C>T-
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)3913LAMB2Uncertain significancers149325182RCV001203735|RCV001288665; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN51720234916901849169018CT3:g.49169018C>T-
NM_002292.4(LAMB2):c.594T>G (p.Asp198Glu)3913LAMB2Uncertain significance-1RCV001969737; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916902249169022AC49169022-
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp)3913LAMB2Uncertain significance-1RCV001994067; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916903349169033GA49169033-
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu)3913LAMB2Uncertain significancers2045483102RCV001148573|RCV001148574; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916905349169053CT3:g.49169053C>T-
NM_002292.4(LAMB2):c.540T>C (p.Tyr180=)3913LAMB2Likely benign-1RCV002149538; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916907649169076AG49169076-
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys)3913LAMB2Uncertain significancers1335383406RCV001148575|RCV001148576; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916907749169077TC3:g.49169077T>C-
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln)3913LAMB2Uncertain significancers924410863RCV000705497; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916908949169089CTNC_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=)3913LAMB2Likely benign-1RCV001417115; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916910349169103GA49169103-
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)3913LAMB2Benign/Likely benignrs149856537RCV000540152|RCV001148577|RCV001148578|RCV001796116; NMONDO: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|M34916910649169106GA3:g.49169106G>AClinGen:CA2394900C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.494C>T (p.Ser165Leu)3913LAMB2Uncertain significance-1RCV001985682; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916912249169122GA49169122-
NM_002292.4(LAMB2):c.491G>A (p.Arg164His)3913LAMB2Uncertain significance-1RCV001965226; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916912549169125CT49169125-
NM_002292.4(LAMB2):c.478A>G (p.Met160Val)3913LAMB2Uncertain significancers2045483964RCV001150143|RCV001150144; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916913849169138TC3:g.49169138T>C-
NM_002292.4(LAMB2):c.471T>C (p.Pro157=)3913LAMB2Likely benign-1RCV002205375; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916914549169145AG49169145-
NM_002292.4(LAMB2):c.469C>T (p.Pro157Ser)3913LAMB2Uncertain significance-1RCV001887335; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916914749169147GA49169147-
NM_002292.4(LAMB2):c.467G>A (p.Arg156His)3913LAMB2Uncertain significancers1378409559RCV000544140; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916914949169149CT3:g.49169149C>TClinGen:CA352751228C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.460-8C>G3913LAMB2Likely benignrs200141829RCV000876934|RCV001502705; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916916449169164GC3:g.49169164G>C-
NM_002292.4(LAMB2):c.452_453del (p.Thr151fs)3913LAMB2Pathogenic-1RCV001390089; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916955549169556AGGA49169554-
NM_002292.4(LAMB2):c.431A>G (p.His144Arg)3913LAMB2Uncertain significance-1RCV001990296; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916957749169577TC49169577-
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)3913LAMB2Uncertain significancers766482429RCV001244723|RCV001849487; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; 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 Ont34916961349169613GA3:g.49169613G>A-
NM_002292.4(LAMB2):c.386-15C>T3913LAMB2Uncertain significancers117575041RCV000293315|RCV000348499; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916963749169637GANC_000003.11:g.49169637G>AClinGen:CA2394939C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.385+9A>G3913LAMB2Uncertain significance-1RCV001870258; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916969449169694TC49169694-
NM_002292.4(LAMB2):c.385+5G>A3913LAMB2Uncertain significancers540191089RCV001150145|RCV001150146; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916969849169698CT3:g.49169698C>T-
NM_002292.4(LAMB2):c.359G>A (p.Arg120Gln)3913LAMB2Uncertain significance-1RCV001905369; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916972949169729CT49169729-
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp)3913LAMB2Uncertain significancers1271143265RCV001337187; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916973049169730GA49169730-
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr)3913LAMB2Likely benignrs552475229RCV001150147|RCV001150148|RCV002070818; NMONDO: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:30650734916977849169778GA3:g.49169778G>A-
NM_002292.4(LAMB2):c.306C>T (p.Asn102=)3913LAMB2Benign/Likely benignrs79448908RCV000242586|RCV000299339|RCV000399816|RCV000550042|RCV001546755; NMedGen: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,O34916978249169782GA3:g.49169782G>AClinGen:CA2394966C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro)3913LAMB2Uncertain significancers147691227RCV000649518; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916980449169804CG3:g.49169804C>GClinGen:CA352755107C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.284G>A (p.Arg95His)3913LAMB2Uncertain significancers147691227RCV000707218|RCV001144005|RCV001144004; NMONDO: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:267034916980449169804CTNC_000003.11:g.49169804C>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp)3913LAMB2Uncertain significancers754551568RCV000335613|RCV000392421|RCV001861220; NMONDO: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:267034916980849169808GANC_000003.11:g.49169808G>AClinGen:CA2394972C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn)3913LAMB2Uncertain significancers149408554RCV000820852|RCV001759607; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN51720234916982749169827CG3:g.49169827C>G-
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)3913LAMB2Benign/Likely benignrs149408554RCV000873882|RCV001144006|RCV001144007|RCV001703243|RCV001577352; NMONDO: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|M34916982749169827CT3:g.49169827C>T-
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)3913LAMB2Conflicting interpretations of pathogenicityrs140371771RCV000305973|RCV000360815|RCV000649516; NMONDO: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:267034916983549169835CTNC_000003.11:g.49169835C>TClinGen:CA2394979C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.252C>T (p.Asp84=)3913LAMB2Likely benign-1RCV001400715; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916983649169836GA49169836-
NM_002292.4(LAMB2):c.250-14C>T3913LAMB2Benign/Likely benignrs371403310RCV000266146|RCV000302586|RCV002057888; NMONDO: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:267034916985249169852GANC_000003.11:g.49169852G>AClinGen:CA2394984C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.237C>T (p.Val79=)3913LAMB2Likely benign-1RCV002152877; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916993649169936GA49169936-
NM_002292.4(LAMB2):c.228C>T (p.Tyr76=)3913LAMB2Likely benign-1RCV002207769; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916994549169945GA49169945-
NM_002292.4(LAMB2):c.217C>G (p.Pro73Ala)3913LAMB2Uncertain significance-1RCV002012451; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916995649169956GC49169956-
NM_002292.4(LAMB2):c.216C>T (p.Gly72=)3913LAMB2Likely benignrs768806166RCV000877873|RCV001407749; NMedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916995749169957GA3:g.49169957G>A-
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val)3913LAMB2Uncertain significancers766047117RCV001038936; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916998249169982GA3:g.49169982G>A-
NM_002292.4(LAMB2):c.189T>C (p.Thr63=)3913LAMB2Likely benignrs200171185RCV000960751; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916998449169984AG3:g.49169984A>G-
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met)3913LAMB2Uncertain significancers748829288RCV000815225; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917002149170021GA3:g.49170021G>A-
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val)3913LAMB2Uncertain significancers758825199RCV000698189; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917002449170024GANC_000003.11:g.49170024G>A-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.130del (p.Arg44fs)3913LAMB2Likely pathogenic-1RCV001808851; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917004349170043CTC49170042-
NM_002292.4(LAMB2):c.115G>A (p.Val39Met)3913LAMB2Uncertain significance-1RCV001993026; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917005849170058CT49170058-
NM_002292.4(LAMB2):c.114T>C (p.Asp38=)3913LAMB2Likely benign-1RCV001468162; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917005949170059AG49170059-
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)3913LAMB2Conflicting interpretations of pathogenicityrs144765752RCV000524651|RCV001085501|RCV001145914|RCV001145915|RCV000732468; NMedGen: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,O34917006449170064GC3:g.49170064G>CClinGen:CA2395042C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)3913LAMB2Conflicting interpretations of pathogenicityrs202057459RCV000271632|RCV000366666|RCV001516710|RCV001753813; NMONDO: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|M34917007249170072GTNC_000003.11:g.49170072G>TClinGen:CA2395047C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.99G>A (p.Gln33=)3913LAMB2Likely benign-1RCV002120346; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917007449170074CT49170074-
NM_002292.4(LAMB2):c.77-9T>C3913LAMB2Likely benign-1RCV001446553; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917010549170105AG49170105-
NM_002292.4(LAMB2):c.76+10C>T3913LAMB2Conflicting interpretations of pathogenicityrs370554848RCV000955093|RCV001148697|RCV001148698; NMONDO: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:267034917021549170215GA3:g.49170215G>A-
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser)3913LAMB2Uncertain significance-1RCV001911644; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917025449170254CG49170254-
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro)3913LAMB2Uncertain significancers373955878RCV000649515; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917029349170293AG3:g.49170293A>GClinGen:CA2395077C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.-12C>A3913LAMB2Uncertain significancers768032929RCV001148700|RCV001148699; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917031249170312GT3:g.49170312G>T-
NM_002292.4(LAMB2):c.-112A>T3913LAMB2Uncertain significancers546461860RCV000326653|RCV000381797; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917041249170412TANC_000003.11:g.49170412T>AClinGen:CA10619161C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.-146G>T3913LAMB2Uncertain significancers886058678RCV000278030|RCV000332959; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734917044649170446CANC_000003.11:g.49170446C>AClinGen:CA10616347C0027726 Nephrotic syndrome;
NM_002292.3(LAMB2):c.-200C>T3913LAMB2Uncertain significancers886058679RCV000293048|RCV000387507; NMONDO: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:MONDO34917050049170500GANC_000003.11:g.49170500G>AClinGen:CA10616348C0027726 Nephrotic syndrome;
NM_002292.3(LAMB2):c.-279A>T3913LAMB2Uncertain significancers886058682RCV000302747|RCV000402289; NMONDO: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:MONDO34917057949170579TANC_000003.11:g.49170579T>AClinGen:CA10619164C0027726 Nephrotic syndrome;
MSeqDR Portal