3913[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1441681.	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 GRCh37: Chr3:45921375-50787353 GRCh38: Chr3:45879883-50749922	ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CRIPTO, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC101928965, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LOC126806671, LOC126806672, LOC126806673, LOC126806674, LOC126806675, LOC126806676, LOC127898564, LOC129389065, LOC129389066, LOC129389067, LOC129389068, LOC129389069, LOC129389070, LOC129389071, LOC129389072, LOC129389073, LOC129389074, LOC129389075, LOC129389076, LOC129389077, LOC129936634, LOC129936635, LOC129936636, LOC129936637, LOC129936638, LOC129936639, LOC129936640, LOC129936641, LOC129936642, LOC129936643, LOC129936644, LOC129936645, LOC129936646, LOC129936647, LOC129936648, LOC129936649, LOC129936650, LOC129936651, LOC129936652, LOC129936653, LOC129936654, LOC129936655, LOC129936656, LOC129936657, LOC129936658, LOC129936659, LOC129936660, LOC129936661, LOC129936662, LOC129936663, LOC129936664, LOC129936665, LOC129936666, LOC129936667, LOC129936668, LOC129936669, LOC129936670, LOC129936671, LOC129936672, LOC129936673, LOC129936674, LOC129936675, LOC129936676, LOC129936677, LOC129936678, LOC129936679, LOC129936680, LOC129936681, LOC129936682, LOC129936683, LOC129936684, LOC129936685, LOC129936686, LOC129936687, LOC129936688, LOC129936689, LOC129936690, LOC129936691, LOC129936692, LOC129936693, LOC129936694, LOC129936695, LOC129936696, LOC129936697, LOC129936698, LOC129936699, LOC129936700, LOC129936701, LOC129936702, LOC129936703, LOC129936704, LOC129936705, LOC129936706, LOC129936707, LOC129936708, LOC129936709, LOC129936710, LOC129936711, LOC129936712, LOC129936713, LOC129936714, LOC129936715, LOC129936716, LOC129936717, LOC129936718, LOC129936719, LOC129936720, LOC129936721, LOC129936722, LOC129936723, LOC129936724, LOC129936725, LOC129936726, LOC129936727, LOC129936728, LOC129936729, LOC129936730, LOC129936731, LOC129936732, LOC129936733, LOC129936734, LOC129936735, LOC129936736, LOC129936737, LOC129936738, LOC129936739, LOC129936740, LOC129936741, LOC129936742, LOC129936743, LOC129936744, LOC129936745, LOC129936746, LOC129936747, LOC129936748, LOC129936749, LOC129936750, LOC129936751, LOC129936752, LOC129936753, LOC129936754, LOC129936755, LOC129936756, LOC129936757, LOC129936758, LOC129936759, LOC129936760, LOC129936761, LOC129936762, LOC129936763, LOC129936764, LOC129936765, LOC129936766, LOC129936767, LOC129936768, LOC129936769, LOC129936770, LOC129936771, LOC129936772, LOC129936773, LOC129936774, LOC129936775, LOC129936776, LOC129936777, LOC129936778, LOC129936779, LOC129936780, LOC129936781, LOC129936782, LOC129936783, LOC129936784, LOC129936785, LOC129936786, LOC129936787, LOC129936788, LOC129936789, LOC129936790, LOC129936791, LOC129936792, LOC129936793, LOC129936794, LOC129936795, LOC129936796, LOC129936797, LOC129936798, LOC129936799, LOC129936800, LOC129936801, LOC129936802, LOC129936803, LOC129936804, LOC129936805, LOC129936806, LOC129936807, LOC129936808, LOC129936809, LOC129936810, LOC129936811, LOC132088966, LOC132088967, LOC132088968, LOC132088969, LOC132088970, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NME6, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, PTPN23-DT, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589		See cases	Pathogenic (Sep 23, 2013)	no assertion criteria provided
Select item 1554432.	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4 GRCh37: Chr3:48988118-49208814 GRCh38: Chr3:48950685-49171381	ARIH2, CCDC71, DALRD3, IMPDH2, LAMB2, LOC115995510, LOC122889086, LOC129389074, LOC129936725, LOC129936726, LOC129936727, LOC129936728, LOC129936729, LOC129936730, LOC129936731, LOC129936732, LOC129936733, LOC129936734, LOC129936735, LOC129936736, LOC129936737, LOC129936738, LOC129936739, LOC129936740, LOC129936741, LOC129936742, LOC129936743, MIR191, MIR425, MIR6890, NDUFAF3, P4HTM, QARS1, QRICH1, USP19, WDR6		See cases	Uncertain significance (Sep 27, 2013)	no assertion criteria provided
Select item 3459703.	NM_002292.4(LAMB2):c.*92A>G GRCh37: Chr3:49158567 GRCh38: Chr3:49121134	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 24333914.	NM_002292.4(LAMB2):c.5394del (p.Gln1798fs) GRCh37: Chr3:49158662 GRCh38: Chr3:49121229	LAMB2	Q1798fs	not provided	Uncertain significance (Jun 14, 2021)	criteria provided, single submitter
Select item 22013395.	NM_002292.4(LAMB2):c.5385C>T (p.Asn1795=) GRCh37: Chr3:49158671 GRCh38: Chr3:49121238	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 4446026.	NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) GRCh37: Chr3:49158677 GRCh38: Chr3:49121244	LAMB2	I1793M	not provided, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19191287.	NM_002292.4(LAMB2):c.5355A>G (p.Gln1785=) GRCh37: Chr3:49158701 GRCh38: Chr3:49121268	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 9018218.	NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe) GRCh37: Chr3:49158706 GRCh38: Chr3:49121273	LAMB2	L1784F	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 10881629.	NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=) GRCh37: Chr3:49158710 GRCh38: Chr3:49121277	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Jan 27, 2019)	criteria provided, single submitter
Select item 249377710.	NM_002292.4(LAMB2):c.5337G>C (p.Arg1779Ser) GRCh37: Chr3:49158719 GRCh38: Chr3:49121286	LAMB2	R1779S	Inborn genetic diseases	Uncertain significance (Mar 2, 2023)	criteria provided, single submitter
Select item 262742311.	NM_002292.4(LAMB2):c.5332G>C (p.Ala1778Pro) GRCh37: Chr3:49158724 GRCh38: Chr3:49121291	LAMB2	A1778P	LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance	criteria provided, single submitter
Select item 100784112.	NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys) GRCh37: Chr3:49158727 GRCh38: Chr3:49121294	LAMB2	E1777K	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 197192013.	NM_002292.4(LAMB2):c.5301G>A (p.Glu1767=) GRCh37: Chr3:49158755 GRCh38: Chr3:49121322	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 25861514.	NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) GRCh37: Chr3:49158763 GRCh38: Chr3:49121330	LAMB2	A1765T	not specified, not provided, Pierson syndrome, Focal segmental glomerulosclerosis, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome	Benign/Likely benign (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34597115.	NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) GRCh37: Chr3:49158770 GRCh38: Chr3:49121337	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2020)	criteria provided, conflicting interpretations
Select item 255624416.	NM_002292.4(LAMB2):c.5281G>A (p.Glu1761Lys) GRCh37: Chr3:49158775 GRCh38: Chr3:49121342	LAMB2	E1761K	Inborn genetic diseases	Uncertain significance (Jun 2, 2023)	criteria provided, single submitter
Select item 136064917.	NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=) GRCh37: Chr3:49158782 GRCh38: Chr3:49121349	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 157463018.	NM_002292.4(LAMB2):c.5261-7T>C GRCh37: Chr3:49158802 GRCh38: Chr3:49121369	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 158616219.	NM_002292.4(LAMB2):c.5261-8C>T GRCh37: Chr3:49158803 GRCh38: Chr3:49121370	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Jan 16, 2021)	criteria provided, single submitter
Select item 119974920.	NM_002292.4(LAMB2):c.5261-27C>G GRCh37: Chr3:49158822 GRCh38: Chr3:49121389	LAMB2		not provided	Likely benign (Mar 2, 2020)	criteria provided, single submitter
Select item 130095621.	NM_002292.4(LAMB2):c.5260+34G>A GRCh37: Chr3:49158832 GRCh38: Chr3:49121399	LAMB2		not provided	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 162651022.	NM_002292.4(LAMB2):c.5260+13G>A GRCh37: Chr3:49158853 GRCh38: Chr3:49121420	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 265382523.	NM_002292.4(LAMB2):c.5260+1G>T GRCh37: Chr3:49158865 GRCh38: Chr3:49121432	LAMB2		not provided	Pathogenic (Aug 1, 2023)	criteria provided, single submitter
Select item 1453124.	NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) GRCh37: Chr3:49158867-49158868 GRCh38: Chr3:49121434-49121435	LAMB2	E1754fs	Pierson syndrome	Pathogenic (Nov 1, 2004)	no assertion criteria provided
Select item 65342625.	NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln) GRCh37: Chr3:49158871 GRCh38: Chr3:49121438	LAMB2	L1752Q	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 158965126.	NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=) GRCh37: Chr3:49158882 GRCh38: Chr3:49121449	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 47249827.	NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly) GRCh37: Chr3:49158886 GRCh38: Chr3:49121453	LAMB2	D1747G	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 90272628.	NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) GRCh37: Chr3:49158893 GRCh38: Chr3:49121460	LAMB2	A1745T	LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, Pierson syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155098129.	NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=) GRCh37: Chr3:49158894 GRCh38: Chr3:49121461	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 141338530.	NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro) GRCh37: Chr3:49158896 GRCh38: Chr3:49121463	LAMB2	A1744P	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 47249731.	NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val) GRCh37: Chr3:49158913 GRCh38: Chr3:49121480	LAMB2	A1738V	Inborn genetic diseases, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143723432.	NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala) GRCh37: Chr3:49158916 GRCh38: Chr3:49121483	LAMB2	E1737A	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 161804033.	NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=) GRCh37: Chr3:49158921 GRCh38: Chr3:49121488	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 209052334.	NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del) GRCh37: Chr3:49158933-49158938 GRCh38: Chr3:49121500-49121505	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 209052435.	NM_002292.4(LAMB2):c.5187A>T (p.Ala1729=) GRCh37: Chr3:49158939 GRCh38: Chr3:49121506	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 101675636.	NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val) GRCh37: Chr3:49158940 GRCh38: Chr3:49121507	LAMB2	A1729V	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 263412837.	NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter) GRCh37: Chr3:49158944 GRCh38: Chr3:49121511	LAMB2	Q1728*	LAMB2-related condition	Pathogenic (Jul 12, 2023)	criteria provided, single submitter
Select item 158749838.	NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=) GRCh37: Chr3:49158951 GRCh38: Chr3:49121518	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 47249539.	NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) GRCh37: Chr3:49158960 GRCh38: Chr3:49121527	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Benign/Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139528140.	NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr) GRCh37: Chr3:49158967 GRCh38: Chr3:49121534	LAMB2	K1720T	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 96696241.	NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His) GRCh37: Chr3:49158970 GRCh38: Chr3:49121537	LAMB2	R1719H	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 47249442.	NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) GRCh37: Chr3:49158971 GRCh38: Chr3:49121538	LAMB2	R1719C	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 70765043.	NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) GRCh37: Chr3:49158984 GRCh38: Chr3:49121551	LAMB2		Pierson syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 219515044.	NM_002292.4(LAMB2):c.5136G>A (p.Thr1712=) GRCh37: Chr3:49158990 GRCh38: Chr3:49121557	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 85191545.	NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys) GRCh37: Chr3:49158991 GRCh38: Chr3:49121558	LAMB2	T1712K	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 77270346.	NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=) GRCh37: Chr3:49159011 GRCh38: Chr3:49121578	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 77155347.	NM_002292.4(LAMB2):c.5115T>G (p.Pro1705=) GRCh37: Chr3:49159011 GRCh38: Chr3:49121578	LAMB2		not provided	Likely benign (Oct 23, 2017)	criteria provided, single submitter
Select item 34597248.	NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) GRCh37: Chr3:49159017 GRCh38: Chr3:49121584	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 144217849.	NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His) GRCh37: Chr3:49159018 GRCh38: Chr3:49121585	LAMB2	R1703H	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 70570450.	NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) GRCh37: Chr3:49159156 GRCh38: Chr3:49121723	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47249251.	NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) GRCh37: Chr3:49159156 GRCh38: Chr3:49121723	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified, Pierson syndrome	Benign/Likely benign (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19117652.	NM_002292.4(LAMB2):c.5056G>T (p.Glu1686Ter) GRCh37: Chr3:49159161 GRCh38: Chr3:49121728	LAMB2	E1686*	not provided	Likely pathogenic	no assertion criteria provided
Select item 34597353.	NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) GRCh37: Chr3:49159178 GRCh38: Chr3:49121745	LAMB2	A1680V	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not provided, LAMB2-related condition, Inborn genetic diseases, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66275054.	NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile) GRCh37: Chr3:49159190-49159191 GRCh38: Chr3:49121757-49121758	LAMB2	G1676I	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 34597455.	NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) GRCh37: Chr3:49159190 GRCh38: Chr3:49121757	LAMB2	G1676V	not specified, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Benign/Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34597556.	NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) GRCh37: Chr3:49159191 GRCh38: Chr3:49121758	LAMB2	G1676R	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34597657.	NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) GRCh37: Chr3:49159196 GRCh38: Chr3:49121763	LAMB2	R1674Q	Inborn genetic diseases, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140575258.	NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp) GRCh37: Chr3:49159197 GRCh38: Chr3:49121764	LAMB2	R1674W	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 73227259.	NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=) GRCh37: Chr3:49159219 GRCh38: Chr3:49121786	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 163456960.	NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=) GRCh37: Chr3:49159230 GRCh38: Chr3:49121797	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Dec 2, 2020)	criteria provided, single submitter
Select item 205061261.	NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln) GRCh37: Chr3:49159235 GRCh38: Chr3:49121802	LAMB2	R1661Q	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 231795662.	NM_002292.4(LAMB2):c.4975A>G (p.Arg1659Gly) GRCh37: Chr3:49159242 GRCh38: Chr3:49121809	LAMB2	R1659G	Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 147203363.	NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu) GRCh37: Chr3:49159250 GRCh38: Chr3:49121817	LAMB2	A1656E	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 214133064.	NM_002292.4(LAMB2):c.4965T>G (p.Ser1655=) GRCh37: Chr3:49159252 GRCh38: Chr3:49121819	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 47249165.	NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) GRCh37: Chr3:49159259 GRCh38: Chr3:49121826	LAMB2	L1653P	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 90133666.	NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) GRCh37: Chr3:49159263 GRCh38: Chr3:49121830	LAMB2	A1652T	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162916067.	NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln) GRCh37: Chr3:49159265 GRCh38: Chr3:49121832	LAMB2	R1651Q	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome, Inborn genetic diseases	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85992768.	NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp) GRCh37: Chr3:49159266 GRCh38: Chr3:49121833	LAMB2	R1651W	Inborn genetic diseases, Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211456669.	NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val) GRCh37: Chr3:49159274 GRCh38: Chr3:49121841	LAMB2	G1648V	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 141885270.	NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp) GRCh37: Chr3:49159274 GRCh38: Chr3:49121841	LAMB2	G1648D	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 117084771.	NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg) GRCh37: Chr3:49159289 GRCh38: Chr3:49121856	LAMB2	Q1643R	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 165319172.	NM_002292.4(LAMB2):c.4924-11A>G GRCh37: Chr3:49159304 GRCh38: Chr3:49121871	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 121898073.	NM_002292.4(LAMB2):c.4924-35G>A GRCh37: Chr3:49159328 GRCh38: Chr3:49121895	LAMB2		not provided	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 25861474.	NM_002292.4(LAMB2):c.4923+17A>G GRCh37: Chr3:49159360 GRCh38: Chr3:49121927	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220339175.	NM_002292.4(LAMB2):c.4923+2T>G GRCh37: Chr3:49159375 GRCh38: Chr3:49121942	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 225683576.	NM_002292.4(LAMB2):c.4923+1G>T GRCh37: Chr3:49159376 GRCh38: Chr3:49121943	LAMB2		Inborn genetic diseases	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 101580377.	NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys) GRCh37: Chr3:49159381 GRCh38: Chr3:49121948	LAMB2	Y1640C	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 263623178.	NM_002292.4(LAMB2):c.4907_4908del (p.Glu1636fs) GRCh37: Chr3:49159392-49159393 GRCh38: Chr3:49121959-49121960	LAMB2	E1636fs	LAMB2-related condition	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 133351179.	NM_002292.4(LAMB2):c.4904_4905del (p.Thr1635fs) GRCh37: Chr3:49159395-49159396 GRCh38: Chr3:49121962-49121963	LAMB2	T1635fs	LAMB2-related infantile-onset nephrotic syndrome	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 206235980.	NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln) GRCh37: Chr3:49159402 GRCh38: Chr3:49121969	LAMB2	R1633Q	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 150535181.	NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp) GRCh37: Chr3:49159403 GRCh38: Chr3:49121970	LAMB2	R1633W	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103619282.	NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr) GRCh37: Chr3:49159412 GRCh38: Chr3:49121979	LAMB2	A1630T	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 258539783.	NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs) GRCh37: Chr3:49159417-49159418 GRCh38: Chr3:49121984-49121985	LAMB2	A1628fs	Pierson syndrome	Likely pathogenic	criteria provided, single submitter
Select item 105308484.	NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr) GRCh37: Chr3:49159418 GRCh38: Chr3:49121985	LAMB2	A1628T	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 25861385.	NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) GRCh37: Chr3:49159422 GRCh38: Chr3:49121989	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome, not specified, LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 63951086.	NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) GRCh37: Chr3:49159423 GRCh38: Chr3:49121990	LAMB2	R1626Q	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47249087.	NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro) GRCh37: Chr3:49159423 GRCh38: Chr3:49121990	LAMB2	R1626P	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 102330188.	NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn) GRCh37: Chr3:49159426 GRCh38: Chr3:49121993	LAMB2	I1625N	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 224162989.	NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser) GRCh37: Chr3:49159433 GRCh38: Chr3:49122000	LAMB2	G1623S	Inborn genetic diseases	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 109799190.	NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) GRCh37: Chr3:49159437 GRCh38: Chr3:49122004	LAMB2		Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146702291.	NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val) GRCh37: Chr3:49159442 GRCh38: Chr3:49122009	LAMB2	I1620V	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 147448092.	NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp) GRCh37: Chr3:49159444 GRCh38: Chr3:49122011	LAMB2	G1619D	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 116924793.	NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) GRCh37: Chr3:49159452 GRCh38: Chr3:49122019	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Benign/Likely benign (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 228874594.	NM_002292.4(LAMB2):c.4847G>A (p.Arg1616Gln) GRCh37: Chr3:49159453 GRCh38: Chr3:49122020	LAMB2	R1616Q	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 210937295.	NM_002292.4(LAMB2):c.4837G>A (p.Glu1613Lys) GRCh37: Chr3:49159463 GRCh38: Chr3:49122030	LAMB2	E1613K	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 208899796.	NM_002292.4(LAMB2):c.4830A>T (p.Ala1610=) GRCh37: Chr3:49159470 GRCh38: Chr3:49122037	LAMB2		LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 168668797.	NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter) GRCh37: Chr3:49159478 GRCh38: Chr3:49122045	LAMB2	Q1608*	not provided	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 59135598.	NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys) GRCh37: Chr3:49159478-49159479 GRCh38: Chr3:49122045-49122046	LAMB2	Q1608K	Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 199414199.	NM_002292.4(LAMB2):c.4816A>G (p.Thr1606Ala) GRCh37: Chr3:49159484 GRCh38: Chr3:49122051	LAMB2	T1606A	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 2116167100.	NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs) GRCh37: Chr3:49159493-49159494 GRCh38: Chr3:49122060-49122061	LAMB2	K1603fs	LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome	Pathogenic (Mar 23, 2022)	criteria provided, single submitter

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