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
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:267034915856749158567TC3:g.49158567T>CClinGen:CA10616322
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)3913LAMB2Uncertain significancers11550620RCV000513389|RCV000553199; NMedGen:CN517202|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 significance-1RCV001147932|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.5293G>A (p.Ala1765Thr)3913LAMB2Benignrs74951356RCV000253175|RCV000313486|RCV000404994|RCV000545161; 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,O34915876349158763CT3:g.49158763C>TClinGen:CA2393553
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)3913LAMB2Uncertain significancers781092208RCV000268661|RCV000370453; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915877049158770AG3:g.49158770A>GClinGen:CA2393554
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)3913LAMB2Pathogenicrs1560063136RCV000015630; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915886749158868CCT3:g.49158867_49158868insTOMIM: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.5240A>G (p.Asp1747Gly)3913LAMB2Uncertain significancers777643155RCV000532554; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915888649158886TC3:g.49158886T>CClinGen:CA2393578
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)3913LAMB2Uncertain significance-1RCV001149473|RCV001149474; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915889349158893CT3:g.49158893C>T-
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val)3913LAMB2Uncertain significancers139156815RCV000552419; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915891349158913GA3:g.49158913G>AClinGen:CA2393582C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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.5156G>A (p.Arg1719His)3913LAMB2Uncertain significance-1RCV001241764; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915897049158970CT3:g.49158970C>T-
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys)3913LAMB2Uncertain significancers201458234RCV000555600; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915897149158971GA3: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: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:30650734915898449158984CT3:g.49158984C>T-
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)3913LAMB2Uncertain significance-1RCV001056425; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915899149158991GT3:g.49158991G>T-
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915901749159017GA3:g.49159017G>AClinGen:CA2393599
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)3913LAMB2Benign/Likely benignrs150465100RCV000527520|RCV001145190|RCV001145191; 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:30650734915915649159156CA3: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915915649159156CT3:g.49159156C>T-
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val)3913LAMB2Uncertain significancers141473691RCV000272339|RCV000321246|RCV000551379; 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:30650734915917849159178GA3:g.49159178G>AClinGen:CA2393624
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,O34915919049159190CA3:g.49159190C>AClinGen:CA2393625
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile)3913LAMB2Uncertain significancers1575526216RCV000820473; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915919049159191CCATNC_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,O34915919149159191CT3:g.49159191C>TClinGen:CA2393626
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915919649159196CT3:g.49159196C>TClinGen:CA2393629
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=)3913LAMB2Likely benignrs143723352RCV000907389; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915921949159219GA3:g.49159219G>A-
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro)3913LAMB2Uncertain significancers200761921RCV000534197; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915925949159259AG3:g.49159259A>GClinGen:CA2393645C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr)3913LAMB2Uncertain significance-1RCV001147148|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.4951C>T (p.Arg1651Trp)3913LAMB2Uncertain significance-1RCV001066146; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734915926649159266GA3:g.49159266G>A-
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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915942349159423CG3: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.4778C>A (p.Ala1593Glu)3913LAMB2Uncertain significance-1RCV001242684; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915959949159599GT3:g.49159599G>T-
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)3913LAMB2Benignrs61729458RCV000251444|RCV000350028|RCV000407807|RCV000712179|RCV001082801; 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:C3280134915960349159603GA3:g.49159603G>AClinGen:CA2393708
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)3913LAMB2Pathogenicrs1553776921RCV000537956; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915960349159604GGC3:g.49159603_49159604insCClinGen:CA658657298C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915962649159626TC3:g.49159626T>CClinGen:CA2393715C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val)3913LAMB2Uncertain significance-1RCV001228507; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915966549159665GA3:g.49159665G>A-
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile)3913LAMB2Uncertain significancers373872524RCV000799654; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915968349159683CA3: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 significance-1RCV001148043|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.4645G>T (p.Ala1549Ser)3913LAMB2Uncertain significancers764494090RCV000649517; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034915973249159732CA3:g.49159732C>AClinGen:CA2393741
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile)3913LAMB2Uncertain significance-1RCV001216011; 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.4559A>G (p.Lys1520Arg)3913LAMB2Uncertain significancers148069401RCV000536067; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916015149160151TC3:g.49160151T>CClinGen:CA2393774
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)3913LAMB2Pathogenic-1RCV001044619; 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 significance-1RCV001051003; 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.4482C>T (p.Ala1494=)3913LAMB2Uncertain significance-1RCV001148045|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.4444C>T (p.Arg1482Trp)3913LAMB2Uncertain significancers755963903RCV000820493; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916026649160266GA3:g.49160266G>A-
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr)3913LAMB2Uncertain significancers1377720264RCV000798371; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916029549160295CG3:g.49160295C>G-
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp)3913LAMB2Uncertain significancers771487133RCV000799293; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916031749160317GA3:g.49160317G>A-
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln)3913LAMB2Conflicting interpretations of pathogenicityrs148818522RCV000519862|RCV000872737|RCV001148047|RCV001148048; 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:60904934916034049160340CT3:g.49160340C>TClinGen:CA2393803CN169374 not specified;
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)3913LAMB2Uncertain significancers151037751RCV000309451|RCV000407789; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916034149160341GA3:g.49160341G>AClinGen:CA2393804
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp)3913LAMB2Uncertain significancers901971113RCV000807095; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916034749160347GA3:g.49160347G>A-
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=)3913LAMB2Likely benignrs202083663RCV000649524; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916036349160363TG3:g.49160363T>GClinGen:CA2393806C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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.4276dup (p.Ala1426fs)3913LAMB2Likely pathogenic-1RCV001251186; 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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916043649160436CG3: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916045349160453AG3:g.49160453A>G-
NM_002292.4(LAMB2):c.4225-5G>C3913LAMB2Likely benignrs372161777RCV000876889; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916049049160490CG3:g.49160490C>G-
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=)3913LAMB2Benignrs143974640RCV000265314|RCV000366469|RCV000559878; 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:30650734916056749160567GA3:g.49160567G>AClinGen:CA2393847
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln)3913LAMB2Benign/Likely benignrs146522641RCV000542773|RCV001090579|RCV001149593|RCV001149594; 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,O34916062649160626CT3:g.49160626C>TClinGen:CA2393857
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)3913LAMB2Uncertain significance-1RCV001149595|RCV001149596; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916064049160640GT3:g.49160640G>T-
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg)3913LAMB2Uncertain significancers754983373RCV000808658|RCV001149597|RCV001149598; 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:30650734916064149160641TC3:g.49160641T>C-
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys)3913LAMB2Uncertain significancers267607207RCV000530745|RCV001145297|RCV001145298; 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:267034916064949160649GT3:g.49160649G>TClinVar:14535,OMIM:150325.0007,ClinGen:CA074242,UniProtKB:P55268#VAR_031972C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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:30650734916065549160655GA3:g.49160655G>AClinGen:CA2393865
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)3913LAMB2Uncertain significancers112933248RCV000559112|RCV001145299|RCV001145300; 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:267034916067149160671TC3:g.49160671T>CClinGen:CA2393867
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:30650734916074649160746TC3:g.49160746T>CClinGen:CA2393882
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.4011T>C (p.His1337=)3913LAMB2Uncertain significancers886058671RCV000329761|RCV000386874; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916077849160778AG3:g.49160778A>GClinGen:CA10616330
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:30650734916078249160782GA3:g.49160782G>AClinGen:CA10616334
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.3995G>A (p.Ser1332Asn)3913LAMB2Uncertain significance-1RCV001147245|RCV001147246; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916079449160794CT3:g.49160794C>T-
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile)3913LAMB2Likely benignrs148246465RCV000529393|RCV001148141|RCV001148142; 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: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 significance-1RCV001038457; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916098749160987TC3:g.49160987T>C-
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)3913LAMB2Benign/Likely benignrs34967349RCV000554943|RCV001080493|RCV001148143|RCV001148144; 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:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:60904934916100449161004CA3:g.49161004C>AClinGen:CA2393922
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=)3913LAMB2Uncertain significance-1RCV001148145|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.3806T>C (p.Ile1269Thr)3913LAMB2Uncertain significance-1RCV001053584; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916105649161056AG3:g.49161056A>G-
NM_002292.4(LAMB2):c.3797+5G>A3913LAMB2Uncertain significancers150213016RCV000542271; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916115649161156CT3:g.49161156C>TClinGen:CA2393960
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val)3913LAMB2Uncertain significancers771785818RCV000810768; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916118649161186GC3:g.49161186G>C-
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala)3913LAMB2Uncertain significancers1180166011RCV000529689; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916119549161195TC3:g.49161195T>CClinGen:CA352704371
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr)3913LAMB2Uncertain significancers141062242RCV000554100; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916120149161201CT3:g.49161201C>TClinGen:CA2393971
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.3664G>C (p.Gly1222Arg)3913LAMB2Uncertain significancers748563846RCV000289091|RCV000381026; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916129449161294CG3:g.49161294C>GClinGen:CA2393987
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)3913LAMB2Conflicting interpretations of pathogenicityrs13082063RCV000649528|RCV001149695|RCV001149696; 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:267034916131349161313CT3: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; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916131449161314GC3:g.49161314G>CClinGen:CA2393993
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp)3913LAMB2Uncertain significancers760524944RCV000700593; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916131849161318GA3:g.49161318G>A-
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His)3913LAMB2Uncertain significance-1RCV001228155; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916133849161338CT3:g.49161338C>T-
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916137649161376GA3:g.49161376G>AClinGen:CA2394010
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)3913LAMB2Uncertain significance-1RCV001049890; 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: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:267034916141149161411TC3:g.49161411T>CClinGen:CA2394016
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala)3913LAMB2Uncertain significance-1RCV001212817; 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=)3913LAMB2Uncertain significance-1RCV001145383|RCV001145384; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916146049161460TC3: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.3443G>A (p.Arg1148His)3913LAMB2Benignrs138774635RCV000539549|RCV001145385|RCV001145386; 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:267034916151549161515CT3:g.49161515C>TClinGen:CA2394036C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.3425-7C>A3913LAMB2Uncertain significance-1RCV001145387|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.3387A>G (p.Gln1129=)3913LAMB2Benignrs34290943RCV000247774|RCV000297332|RCV000390961; NMedGen:CN169374|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916166049161660TC3: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:MONDO34916169249161692CT3:g.49161692C>TClinGen:CA2394060
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916183049161830CT3:g.49161830C>TClinGen:CA2394089
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)3913LAMB2Uncertain significance-1RCV001147322|RCV001147323; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916183149161831GA3:g.49161831G>A-
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.3273T>C (p.Gly1091=)3913LAMB2Uncertain significance-1RCV001147324|RCV001147325; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916188249161882AG3:g.49161882A>G-
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)3913LAMB2Uncertain significance-1RCV001246143; 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:30650734916195749161957TC3:g.49161957T>CClinGen:CA10616925
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His)3913LAMB2Uncertain significancers1553778039RCV000550798; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916196349161963CG3:g.49161963C>GClinGen:CA352711502
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.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 significance-1RCV001065195; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916201549162015GA3:g.49162015G>A-
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser)3913LAMB2Uncertain significance-1RCV001057132; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916203749162037AT3: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:267034916204049162040TG3:g.49162040T>GClinGen:CA2394116
NM_002292.4(LAMB2):c.3110-15T>C3913LAMB2Benign-1RCV001148255|RCV001148256; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916206049162060AG3:g.49162060A>G-
NM_002292.4(LAMB2):c.3109+13G>C3913LAMB2Uncertain significance-1RCV001148257|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:267034916213349162133CA3:g.49162133C>AClinGen:CA352712801
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys)3913LAMB2Uncertain significancers201159870RCV000533645; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916213449162134GA3: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; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MedGen:CN51720234916217249162172GA3:g.49162172G>AClinGen:CA2394132
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:30650734916218449162184GT3:g.49162184G>T-
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg)3913LAMB2Uncertain significance-1RCV001235953; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916220549162205TC3: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:30650734916220749162207GA3:g.49162207G>AClinGen:CA10616926
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln)3913LAMB2Uncertain significancers777538430RCV000803954; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916220749162207GT3:g.49162207G>T-
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)3913LAMB2Pathogenicrs1560072794RCV000015628; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916222849162228GCG3:g.49162228_49162228delOMIM:150325.0001
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr)3913LAMB2Likely benignrs148732023RCV000875991; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916226849162268AG3:g.49162268A>G-
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys)3913LAMB2Benignrs34759087RCV000252417|RCV000335264|RCV000401038; NMedGen:CN169374|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916228449162284CT3:g.49162284C>TUniProtKB:P55268#VAR_031971,ClinGen:CA2394153C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln)3913LAMB2Uncertain significancers149653966RCV000700025; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916229849162298CT3:g.49162298C>T-
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916232149162321CG3:g.49162321C>GClinGen:CA2394163
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser)3913LAMB2Uncertain significance-1RCV001207856; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916233549162335GA3:g.49162335G>A-
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr)3913LAMB2Uncertain significance-1RCV001220584; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916234049162340CT3:g.49162340C>T-
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)3913LAMB2Pathogenicrs730880125RCV000157282; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916235349162353GA3:g.49162353G>AClinGen:CA346413
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:MONDO34916242449162424GCG3:g.49162424_49162424delClinGen:CA2394182
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln)3913LAMB2Uncertain significance-1RCV001149812|RCV001149813; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916245349162453CT3:g.49162453C>T-
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 significance-1RCV001236692; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916246949162469TA3:g.49162469T>A-
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:30650734916251349162513CT3:g.49162513C>TClinGen:CA2394201
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg)3913LAMB2Uncertain significance-1RCV001145477|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 significance-1RCV001145479|RCV001145480; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916254949162549CT3:g.49162549C>T-
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)3913LAMB2Benignrs35713889RCV000247257|RCV000307336|RCV000371274|RCV000556669|RCV000712177; 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:60904934916258349162583CT3:g.49162583C>TClinGen:CA2394217
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr)3913LAMB2Uncertain significancers201756319RCV000649520; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916259749162597AG3: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916259949162599GA3:g.49162599G>AClinGen:CA2394224C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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:267034916267349162673GT3:g.49162673G>TClinGen:CA2394237
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=)3913LAMB2Benignrs144092322RCV000242465|RCV000712176|RCV001079800|RCV001147424|RCV001147425; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C18334916273349162733GA3: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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916273749162737GA3:g.49162737G>A-
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.2639A>G (p.Asn880Ser)3913LAMB2Uncertain significance-1RCV001147426|RCV001147427; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916276749162767TC3:g.49162767T>C-
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser)3913LAMB2Uncertain significance-1RCV001235190; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916278049162780GA3:g.49162780G>A-
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)3913LAMB2Uncertain significancers146326783RCV000802733; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916281849162818CT3:g.49162818C>T-
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)3913LAMB2Uncertain significance-1RCV001060206; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916288549162885TG3:g.49162885T>G-
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys)3913LAMB2Uncertain significance-1RCV001147428|RCV001147429; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916290049162900CT3:g.49162900C>T-
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val)3913LAMB2Uncertain significance-1RCV001226903; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916291749162917GA3:g.49162917G>A-
NM_002292.4(LAMB2):c.2489-7C>T3913LAMB2Conflicting interpretations of pathogenicityrs374958213RCV000878392|RCV001148353|RCV001148354; 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:30650734916292449162924GA3:g.49162924G>A-
NM_002292.4(LAMB2):c.2488+6C>G3913LAMB2Uncertain significance-1RCV001201621; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916317449163174GC3:g.49163174G>C-
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=)3913LAMB2Likely benignrs1575533579RCV000982041; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916319349163193GA3:g.49163193G>A-
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)3913LAMB2Uncertain significance-1RCV001228578; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916319849163198CT3:g.49163198C>T-
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe)3913LAMB2Uncertain significancers746761674RCV000263746|RCV000367736; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916320949163209TA3:g.49163209T>AClinGen:CA2394298
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His)3913LAMB2Uncertain significancers886058674RCV000318898|RCV000372768; NMONDO: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916323449163234GA3:g.49163234G>AClinGen:CA2394301C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)3913LAMB2Uncertain significance-1RCV001071566; 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.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.2336G>A (p.Gly779Asp)3913LAMB2Uncertain significancers200858061RCV000823720; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916340849163408CT3:g.49163408C>T-
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys)3913LAMB2Uncertain significancers772581224RCV000803313; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916341449163414TC3: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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916342249163422GC3:g.49163422G>CClinGen:CA2394334C0027726 Nephrotic syndrome;
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)3913LAMB2Conflicting interpretations of pathogenicityrs147076626RCV000250277|RCV000544546|RCV001149917|RCV001149918; 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:30650734916344749163447GA3:g.49163447G>A-
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)3913LAMB2Uncertain significance-1RCV001149919|RCV001149920; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916344849163448CT3: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.2271C>A (p.Ser757Arg)3913LAMB2Uncertain significancers143405268RCV000699402; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916347349163473GT3:g.49163473G>T-
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu)3913LAMB2Uncertain significancers1560073886RCV000702150; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916348149163481CG3:g.49163481C>G-
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)3913LAMB2Uncertain significance-1RCV001149921|RCV001149922; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916348249163482CT3:g.49163482C>T-
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His)3913LAMB2Uncertain significance-1RCV001049284; 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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916350849163508GA3:g.49163508G>AClinGen:CA2394352C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu)3913LAMB2Uncertain significance-1RCV001065123; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916352549163525CA3:g.49163525C>A-
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His)3913LAMB2Uncertain significance-1RCV001145582|RCV001145583; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916352549163525CT3:g.49163525C>T-
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys)3913LAMB2Uncertain significancers748798004RCV000804935; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916352649163526GA3:g.49163526G>A-
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 significance-1RCV001213488; 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 significance-1RCV001207742; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916357649163576CT3:g.49163576C>T-
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys)3913LAMB2Uncertain significancers145660751RCV000998076|RCV001242837; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916357749163577GA3:g.49163577G>A-
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)3913LAMB2Uncertain significance-1RCV001215883; 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:30650734916359249163592GA3:g.49163592G>AClinGen:CA2394372
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala)3913LAMB2Uncertain significancers142860588RCV000806465; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916385049163850CG3:g.49163850C>G-
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu)3913LAMB2Conflicting interpretations of pathogenicityrs142860588RCV000877262|RCV001145584|RCV001145585; 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:30650734916385049163850CT3:g.49163850C>T-
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg)3913LAMB2Benignrs28364667RCV000873014|RCV001145586|RCV001145587; 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:267034916385449163854CG3:g.49163854C>G-
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro)3913LAMB2Uncertain significance-1RCV001223845; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916385749163857TG3:g.49163857T>G-
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)3913LAMB2Uncertain significance-1RCV001145698|RCV001145699; NMONDO: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.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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916392049163920AG3:g.49163920A>G-
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=)3913LAMB2Uncertain significance-1RCV001215099; 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.2019-8G>A3913LAMB2Likely benignrs377396194RCV000874490; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916393849163938CT3:g.49163938C>T-
NM_002292.4(LAMB2):c.2018+8C>A3913LAMB2Likely benignrs1553778611RCV000649526; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916588349165883GT3:g.49165883G>TClinGen:CA658796318C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His)3913LAMB2Uncertain significancers200738080RCV000699671; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916597849165978CT3:g.49165978C>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys)3913LAMB2Uncertain significance-1RCV001208071; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916597949165979GA3:g.49165979G>A-
NM_002292.4(LAMB2):c.1891-10G>A3913LAMB2Likely benignrs746381319RCV000649523; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916602849166028CT3:g.49166028C>TClinGen:CA2394461
NM_002292.4(LAMB2):c.1890+9C>T3913LAMB2Likely benignrs1575535180RCV000926264; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916608549166085GA3:g.49166085G>A-
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)3913LAMB2Uncertain significance-1RCV001057551; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916609849166098GA3:g.49166098G>A-
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln)3913LAMB2Uncertain significance-1RCV001232873; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916610249166102CG3:g.49166102C>G-
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=)3913LAMB2Uncertain significancers1131791RCV000692680; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916613349166133CT3:g.49166133C>T-
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.1797C>T (p.Phe599=)3913LAMB2Uncertain significance-1RCV001145700|RCV001145701; NMONDO: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.1768G>A (p.Glu590Lys)3913LAMB2Uncertain significancers1405443471RCV000820300; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916621649166216CT3:g.49166216C>T-
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)3913LAMB2Benignrs33942096RCV000250265|RCV000314824|RCV000407745|RCV000556287; 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,O34916622049166220GA3:g.49166220G>AClinGen:CA2394499
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)3913LAMB2Uncertain significance-1RCV001209943; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916622249166222GC3:g.49166222G>C-
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.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.1681C>T (p.Arg561Trp)3913LAMB2Uncertain significance-1RCV001051246; 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 significance-1RCV001203244; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916651649166516TG3:g.49166516T>G-
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:30650734916670449166704GA3:g.49166704G>AClinGen:CA2394557
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His)3913LAMB2Uncertain significancers148333147RCV000800776; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916671749166717CT3:g.49166717C>T-
NM_002292.4(LAMB2):c.1518+5G>A3913LAMB2Uncertain significance-1RCV001247090; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916703249167032CT3:g.49167032C>T-
NM_002292.4(LAMB2):c.1518+4C>T3913LAMB2Uncertain significance-1RCV001064794; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916703349167033GA3:g.49167033G>A-
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His)3913LAMB2Uncertain significance-1RCV001148463|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.1477del (p.Cys493fs)3913LAMB2Pathogenic-1RCV001052120; 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.1442G>A (p.Ser481Asn)3913LAMB2Uncertain significancers144230655RCV000531143|RCV000762116|RCV001148465|RCV001148466; 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,O34916711349167113CT3:g.49167113C>TClinGen:CA2394589
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.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.1403G>A (p.Arg468Gln)3913LAMB2Uncertain significancers572289637RCV000707574; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916727449167274CT3:g.49167274C>T-
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.1358G>A (p.Arg453His)3913LAMB2Uncertain significancers1428596182RCV000554413; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916731949167319CT3:g.49167319C>TClinGen:CA352740820
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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916732049167320GA3:g.49167320G>AClinGen:CA2394625
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg)3913LAMB2Uncertain significancers1575535913RCV000803997; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916732549167325TC3:g.49167325T>C-
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|RCV001143914|RCV001143915; 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:30650734916737249167372GA3:g.49167372G>A-
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu)3913LAMB2Uncertain significance-1RCV001230732; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916739349167393GT3:g.49167393G>T-
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser)3913LAMB2Uncertain significance-1RCV001055370; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916741649167416CT3:g.49167416C>T-
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu)3913LAMB2Uncertain significance-1RCV001242610; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916742049167420GT3:g.49167420G>T-
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,O34916768349167683CT3:g.49167683C>TClinGen:CA2394669
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val)3913LAMB2Uncertain significance-1RCV001244835; 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.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.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.1023T>A (p.Ser341Arg)3913LAMB2Uncertain significance-1RCV001207505; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916818649168186AT3:g.49168186A>T-
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr)3913LAMB2Uncertain significancers903919410RCV000799175; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916819149168191GA3:g.49168191G>A-
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)3913LAMB2Uncertain significance-1RCV001045616; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916819449168194CT3: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.991C>T (p.Leu331=)3913LAMB2Uncertain significancers561241970RCV000321885|RCV000376445; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916821849168218GA3:g.49168218G>AClinGen:CA2394734
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)3913LAMB2Likely pathogenic-1RCV001261592; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916823949168239AG3:g.49168239A>G-
NM_002292.4(LAMB2):c.951T>A (p.Arg317=)3913LAMB2Likely benignrs755050242RCV000952478; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916825849168258AT3:g.49168258A>T-
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg)3913LAMB2Uncertain significancers774169261RCV000649519; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916828749168287CT3:g.49168287C>TClinGen:CA2394748C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
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:30650734916829749168297TC3:g.49168297T>CClinGen:CA10616343
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:30650734916838449168384AG3:g.49168384A>G-
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)3913LAMB2Conflicting interpretations of pathogenicityrs151251039RCV000287600|RCV000382224|RCV000529365; 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:30650734916848249168482AG3:g.49168482A>GClinGen:CA2394793
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)3913LAMB2Conflicting interpretations of pathogenicityrs375953746RCV000951442|RCV001145810|RCV001145811; 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:30650734916850349168503CT3: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.740T>C (p.Val247Ala)3913LAMB2Uncertain significancers747693090RCV000351917|RCV000402403; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916855849168558AG3:g.49168558A>GClinGen:CA2394807
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)3913LAMB2Pathogenicrs121912488RCV000015629; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916856249168562GA3: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916858849168588GA3: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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916859249168592CT3:g.49168592C>TClinGen:CA2394812C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)3913LAMB2Conflicting interpretations of pathogenicityrs144133177RCV000876120|RCV001088975; NMedGen:CN517202|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916882149168821GA3:g.49168821G>A-
NM_002292.4(LAMB2):c.661G>A (p.Val221Met)3913LAMB2Uncertain significancers748711014RCV000692610; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916886349168863CT3:g.49168863C>T-C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys)3913LAMB2Uncertain significancers368339529RCV000693061; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916897049168970CT3:g.49168970C>T-
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr)3913LAMB2Uncertain significancers1575537041RCV000802331; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916901149169011CT3:g.49169011C>T-
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)3913LAMB2Uncertain significance-1RCV001203735; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916901849169018CT3:g.49169018C>T-
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu)3913LAMB2Uncertain significance-1RCV001148573|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.539A>G (p.Tyr180Cys)3913LAMB2Uncertain significance-1RCV001148575|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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916908949169089CT3:g.49169089C>T-
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)3913LAMB2Benign/Likely benignrs149856537RCV000540152|RCV001148577|RCV001148578; 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:30650734916910649169106GA3:g.49169106G>AClinGen:CA2394900C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.478A>G (p.Met160Val)3913LAMB2Uncertain significance-1RCV001150143|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.467G>A (p.Arg156His)3913LAMB2Uncertain significancers1378409559RCV000544140; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916914949169149CT3:g.49169149C>TClinGen:CA352751228C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)3913LAMB2Uncertain significance-1RCV001244723; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916961349169613GA3: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:267034916963749169637GA3:g.49169637G>AClinGen:CA2394939
NM_002292.4(LAMB2):c.385+5G>A3913LAMB2Uncertain significance-1RCV001150145|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.310C>T (p.His104Tyr)3913LAMB2Likely benign-1RCV001150147|RCV001150148; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916977849169778GA3:g.49169778G>A-
NM_002292.4(LAMB2):c.306C>T (p.Asn102=)3913LAMB2Benignrs79448908RCV000242586|RCV000299339|RCV000399816|RCV000550042; 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:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916980449169804CG3: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|RCV001144004|RCV001144005; 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:30650734916980449169804CT3:g.49169804C>T-
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp)3913LAMB2Uncertain significancers754551568RCV000335613|RCV000392421; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916980849169808GA3:g.49169808G>AClinGen:CA2394972
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn)3913LAMB2Uncertain significancers149408554RCV000820852; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916982749169827CG3:g.49169827C>G-
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)3913LAMB2Benign/Likely benignrs149408554RCV000873882|RCV001144006|RCV001144007; 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:30650734916982749169827CT3: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:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916983549169835CT3:g.49169835C>TClinGen:CA2394979
NM_002292.4(LAMB2):c.250-14C>T3913LAMB2Likely benignrs371403310RCV000266146|RCV000302586; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916985249169852GA3:g.49169852G>AClinGen:CA2394984
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val)3913LAMB2Uncertain significance-1RCV001038936; NMONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:30650734916998249169982GA3:g.49169982G>A-
NM_002292.4(LAMB2):c.189T>C (p.Thr63=)3913LAMB2Likely benignrs200171185RCV000960751; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034916998449169984AG3: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:30650734917002449170024GA3:g.49170024G>A-
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)3913LAMB2Conflicting interpretations of pathogenicityrs144765752RCV000524651|RCV000732468|RCV001085501|RCV001145914|RCV001145915; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670|MONDO:MONDO:0013621,MedGen:C3280134917006449170064GC3:g.49170064G>CClinGen:CA2395042C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)3913LAMB2Likely benignrs202057459RCV000271632|RCV000366666; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917007249170072GT3:g.49170072G>TClinGen:CA2395047
NM_002292.4(LAMB2):c.76+10C>T3913LAMB2Conflicting interpretations of pathogenicityrs370554848RCV000955093|RCV001148697|RCV001148698; 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:267034917021549170215GA3:g.49170215G>A-
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro)3913LAMB2Uncertain significancers373955878RCV000649515; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507; MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917029349170293AG3:g.49170293A>GClinGen:CA2395077C3280113 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities;
NM_002292.4(LAMB2):c.-12C>A3913LAMB2Uncertain significance-1RCV001148699|RCV001148700; NMONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199, Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:267034917031249170312GT3: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:267034917041249170412TA3:g.49170412T>AClinGen:CA10619161
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:30650734917044649170446CA3:g.49170446C>AClinGen:CA10616347
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:MONDO34917050049170500GA3:g.49170500G>AClinGen:CA10616348
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:MONDO34917057949170579TA3:g.49170579T>AClinGen:CA10619164
MSeqDR Portal