Total 70 pathogenic variants reported for Cenani-Lenz syndactyly syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn) SNV
Germline		 Chr11:46893085 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 CA117684 rs_267607220

1 SubmittersRCV000006040
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) SNV
Germline		 Chr11:46899884 Likely pathogenic Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Single Submitter
 CA117685 rs_267607222

2 SubmittersRCV000006041RCV002496277
NM_002334.4(LRP4):c.4959C>G (p.Gly1653=) SNV
Germline		 Chr11:46868107 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 rs_2134775125

1 SubmittersRCV000006042
NM_002334.4(LRP4):c.547+1G>A SNV
Germline		 Chr11:46899386 Likely pathogenic Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Single Submitter
 rs_762425885

2 SubmittersRCV000006043RCV001379445
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) SNV
Germline		 Chr11:46899455 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 CA117686 rs_267607221

1 SubmittersRCV000006044
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) SNV
Germline		 Chr11:46894784 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 CA117687 rs_267607224

1 SubmittersRCV000006045
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) SNV
Germline		 Chr11:46894748 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 CA117688 rs_267607223

1 SubmittersRCV000006046
NM_002334.4(LRP4):c.200-9G>A SNV
Germline		 Chr11:46900387 Pathogenic Cenani-Lenz syndactyly syndrome No Assertion Criteria Provided
 rs_1565801326

1 SubmittersRCV000006047
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) SNV
Germline		 Chr11:46875946 Conflicting classifications of pathogenicity Sclerosteosis 2
Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA129194 rs_387906883

3 SubmittersRCV000023363RCV000490108RCV000800068
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) SNV
Germline		 Chr11:46893119 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA201027 rs_150777198

5 SubmittersRCV000174518RCV000528569RCV001083066RCV001107848
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) SNV
Germline		 Chr11:46875564 Conflicting classifications of pathogenicity not specified
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Condition: not provided
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA205956 rs_61746928

5 SubmittersRCV000192848RCV000555565RCV001657981RCV001107104
NM_002334.4(LRP4):c.639C>T (p.Asp213=) SNV
Germline		 Chr11:46898941 Conflicting classifications of pathogenicity Condition: not provided
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA5970434 rs_144974139

4 SubmittersRCV000338344RCV001107294RCV001086389
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV
Germline		 Chr11:46859041 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
LRP4-related disorder
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA5968969 rs_149082597

8 SubmittersRCV000360139RCV000524562RCV001107019RCV004535290RCV004567827
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) SNV
Germline		 Chr11:46873506 Conflicting classifications of pathogenicity Condition: not provided
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2		 Criteria Provided
Conflicting Classifications
 CA5969360 rs_376909913

2 SubmittersRCV000284635RCV002059153
NM_002334.4(LRP4):c.2815-6T>G SNV
Germline		 Chr11:46879321 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5969770 rs_372210790

3 SubmittersRCV000376467RCV001088893RCV004543072
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) SNV
Germline		 Chr11:46875883 Conflicting classifications of pathogenicity Condition: not provided
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5969530 rs_151234321

8 SubmittersRCV000393021RCV000394052RCV001087525RCV004543088
NM_002334.4(LRP4):c.1048+7G>T SNV
Germline		 Chr11:46896203 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA5970292 rs_148557097

4 SubmittersRCV000401452RCV001084755RCV001102613
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) SNV
Germline		 Chr11:46890405 Conflicting classifications of pathogenicity not specified
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA5970052 rs_138878258

3 SubmittersRCV000306777RCV000549519RCV001107206
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) SNV
Germline		 Chr11:46862661 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5969064 rs_541585714

3 SubmittersRCV000343970RCV001483329RCV003129827
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) SNV
Germline		 Chr11:46871604 Conflicting classifications of pathogenicity Bone Mineral Density Variation
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
LRP4-related disorder
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA5969276 rs_140495790

5 SubmittersRCV000354293RCV000876033RCV004537714RCV003391075RCV001820901
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) SNV
Germline		 Chr11:46875085 Conflicting classifications of pathogenicity Condition: not provided
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA5969432 rs_150681693

7 SubmittersRCV000734104RCV000288021RCV001082274RCV002522198RCV001820902
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) SNV
Germline		 Chr11:46876530 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome Criteria Provided
Conflicting Classifications
 CA10630983 rs_886048351

2 SubmittersRCV000338690
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) SNV
Germline		 Chr11:46886424 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Conflicting Classifications
 CA10630986 rs_886048354

2 SubmittersRCV000382105RCV002056203
NM_002334.4(LRP4):c.282C>T (p.Asn94=) SNV
Germline		 Chr11:46900296 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Conflicting Classifications
 CA5970558 rs_17848224

2 SubmittersRCV000340313RCV002056206
NM_002334.4(LRP4):c.676+13G>A SNV
Germline		 Chr11:46898891 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5970428 rs_200963011

2 SubmittersRCV000260468RCV002056205
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) SNV
Germline		 Chr11:46868628 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 CA5969206 rs_150734530

2 SubmittersRCV000875312RCV000401700
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) SNV
Germline		 Chr11:46873147 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5969304 rs_144169411

2 SubmittersRCV000267197RCV000874022
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) SNV
Germline		 Chr11:46873530 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Conflicting Classifications
 CA5969364 rs_17848229

2 SubmittersRCV000284639RCV001472786
NM_002334.4(LRP4):c.3278-6C>T SNV
Germline		 Chr11:46876836 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA10638695 rs_373579793

2 SubmittersRCV000399500RCV003765793
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) SNV
Germline		 Chr11:46895191 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5970206 rs_374136996

3 SubmittersRCV000302037RCV000876160RCV004537717
NM_002334.4(LRP4):c.5520T>C (p.His1840=) SNV
Germline		 Chr11:46859181 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5968996 rs_144350829

3 SubmittersRCV000536074RCV000394958RCV004544514
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) SNV
Germline		 Chr11:46878979 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Condition: not provided
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5969707 rs_61742871

5 SubmittersRCV000361080RCV001088254RCV000730173RCV004537716
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) SNV
Germline		 Chr11:46879172 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5969747 rs_541593593

2 SubmittersRCV000302711RCV003765794
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) SNV
Germline		 Chr11:46886431 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5969930 rs_374890595

2 SubmittersRCV000275970RCV001070370
NM_002334.4(LRP4):c.922+13G>A SNV
Germline		 Chr11:46896856 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5970337 rs_771013783

2 SubmittersRCV000272713RCV002056204
NM_002334.4(LRP4):c.750C>T (p.Cys250=) SNV
Germline		 Chr11:46898604 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Conflicting Classifications
 CA5970393 rs_758493823

2 SubmittersRCV000333248RCV001450241
NM_002334.4(LRP4):c.316+1G>A SNV
Germline		 Chr11:46900261 Pathogenic Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5970549 rs_780336679

3 SubmittersRCV000578727RCV002496888
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) SNV
Germline		 Chr11:46868653 Conflicting classifications of pathogenicity Condition: not provided
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5969212 rs_146362081

4 SubmittersRCV000521557RCV001068938RCV001104051RCV002525181
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) SNV
Germline		 Chr11:46895281 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5970220 rs_138589242

3 SubmittersRCV000593875RCV001088697RCV004530654
NM_002334.4(LRP4):c.570C>T (p.Pro190=) SNV
Germline		 Chr11:46899010 Conflicting classifications of pathogenicity Condition: not provided
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5970445 rs_147353838

3 SubmittersRCV000592442RCV001079240RCV004530656
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) SNV
Germline		 Chr11:46879262 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Condition: not provided
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 CA5969762 rs_145460760

4 SubmittersRCV000643991RCV001104142RCV003392485RCV004544864
NM_002334.4(LRP4):c.378G>A (p.Leu126=) SNV
Germline		 Chr11:46899915 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 CA5970520 rs_201749120

2 SubmittersRCV001107949RCV002060751
NM_002334.4(LRP4):c.257G>A (p.Arg86His) SNV
Germline		 Chr11:46900321 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Condition: not provided
LRP4-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5970564 rs_138239756

4 SubmittersRCV000643975RCV003129960RCV004533364RCV003243230
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) SNV
Germline		 Chr11:46879264 Pathogenic Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter
 rs_1565785959

1 SubmittersRCV000699205
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) SNV
Germline		 Chr11:46876573 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 rs_137882536

2 SubmittersRCV000874686RCV001107777
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) SNV
Germline		 Chr11:46883948 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 rs_145557677

2 SubmittersRCV000874652RCV001104448
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) SNV
Germline		 Chr11:46868661 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 rs_550931351

2 SubmittersRCV000952048RCV001104052
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) SNV
Germline		 Chr11:46894638 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Condition: not provided
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_146501212

4 SubmittersRCV000951661RCV001107851RCV001311760RCV004533652
NM_002334.4(LRP4):c.759C>T (p.Asp253=) SNV
Germline		 Chr11:46898595 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Conflicting Classifications
 rs_368640705

2 SubmittersRCV000960730RCV001107293
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) SNV
Germline		 Chr11:46889514 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
LRP4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_140757594

3 SubmittersRCV001107205RCV001421601RCV004545063
NM_002334.4(LRP4):c.933A>G (p.Gln311=) SNV
Germline		 Chr11:46896325 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 rs_375108263

2 SubmittersRCV001104533RCV002069728
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) SNV
Unknown		 Chr11:46890298 Likely pathogenic Cenani-Lenz syndactyly syndrome Criteria Provided
Single Submitter
 rs_1941393359

1 SubmittersRCV001262713
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) SNV
Germline		 Chr11:46873578 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 rs_185084650

2 SubmittersRCV001335020RCV002070197
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) SNV
Unknown		 Chr11:46893110 Likely pathogenic Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter
 rs_1479002757

1 SubmittersRCV001535881
NM_002334.4(LRP4):c.1184-1G>A SNV
Unknown		 Chr11:46895292 Likely pathogenic Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter
 rs_1941502709

1 SubmittersRCV001536119
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) SNV
Germline		 Chr11:46893016 Conflicting classifications of pathogenicity Condition: not provided
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Conflicting Classifications
 rs_201253200

3 SubmittersRCV001770790RCV002032856
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter) SNV
Germline		 Chr11:46879300 Pathogenic Condition: not provided
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1218582533

2 SubmittersRCV001783614RCV002541153
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) SNV
Germline		 Chr11:46886489 Pathogenic Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter
 rs_1565790767

1 SubmittersRCV001882347
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) SNV
Germline		 Chr11:46890026 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199654257

3 SubmittersRCV001983200RCV003481221
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) SNV
Germline		 Chr11:46893037 Conflicting classifications of pathogenicity Sclerosteosis 2
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_371763360

2 SubmittersRCV002043767RCV003332374
NM_002334.4(LRP4):c.390T>C (p.Asp130=) SNV
Germline		 Chr11:46899903 Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_140186161

2 SubmittersRCV002119563RCV002224144
NM_002334.4(LRP4):c.3699+1G>A SNV
Germline		 Chr11:46875803 Likely pathogenic Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter

1 SubmittersRCV003054667
NM_002334.4(LRP4):c.2814+1G>A SNV
Germline		 Chr11:46881701 Likely pathogenic Cenani-Lenz syndactyly syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003485993
NM_002334.4(LRP4):c.1184-2A>G SNV
Germline		 Chr11:46895293 Likely pathogenic Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17		 Criteria Provided
Single Submitter

1 SubmittersRCV003783993
NM_002334.4(LRP4):c.2507-1G>A SNV
Germline		 Chr11:46883977 Likely pathogenic Congenital myasthenic syndrome 17
Sclerosteosis 2
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003806863
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn) SNV
Germline		 Chr11:46896893 Likely pathogenic Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003796787