Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_025237.3(SOST):c.70C>T (p.Gln24Ter)	SNV Germline	Chr17:43758672	Pathogenic	Sclerosteosis 1	No Assertion Criteria Provided	CA253289	rs_387906320	1 SubmittersRCV000005049
NM_025237.3(SOST):c.372G>A (p.Trp124Ter)	SNV Germline	Chr17:43755612	Pathogenic	Sclerosteosis 1	Criteria Provided Single Submitter	CA253291	rs_104894644	3 SubmittersRCV000005051
NM_025237.3(SOST):c.376C>T (p.Arg126Ter)	SNV Germline	Chr17:43755608	Pathogenic	Sclerosteosis 1	No Assertion Criteria Provided	CA253293	rs_104894645	2 SubmittersRCV000005052
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 SubmittersRCV000006041 RCV002496277
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 SubmittersRCV000006043 RCV001379445
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 SubmittersRCV000023363 RCV000490108 RCV000800068
NM_002334.4(LRP4):c.3508C>T (p.Arg1170Trp)	SNV Germline	Chr11:46876494	Pathogenic	Sclerosteosis 2	No Assertion Criteria Provided	CA129195	rs_387906884	1 SubmittersRCV000023364
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 SubmittersRCV000174518 RCV000528569 RCV001083066 RCV001107848
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 SubmittersRCV000192848 RCV000555565 RCV001657981 RCV001107104
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 SubmittersRCV000338344 RCV001107294 RCV001086389
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 SubmittersRCV000360139 RCV000524562 RCV001107019 RCV004535290 RCV004567827
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 SubmittersRCV000284635 RCV002059153
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 SubmittersRCV000376467 RCV001088893 RCV004543072
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 SubmittersRCV000393021 RCV000394052 RCV001087525 RCV004543088
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 SubmittersRCV000401452 RCV001084755 RCV001102613
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 SubmittersRCV000306777 RCV000549519 RCV001107206
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 SubmittersRCV000343970 RCV001483329 RCV003129827
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 SubmittersRCV000354293 RCV000876033 RCV004537714 RCV003391075 RCV001820901
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 SubmittersRCV000734104 RCV000288021 RCV001082274 RCV002522198 RCV001820902
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 SubmittersRCV000382105 RCV002056203
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 SubmittersRCV000340313 RCV002056206
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 SubmittersRCV000260468 RCV002056205
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 SubmittersRCV000875312 RCV000401700
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 SubmittersRCV000267197 RCV000874022
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 SubmittersRCV000284639 RCV001472786
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 SubmittersRCV000399500 RCV003765793
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 SubmittersRCV000302037 RCV000876160 RCV004537717
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 SubmittersRCV000536074 RCV000394958 RCV004544514
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 SubmittersRCV000361080 RCV001088254 RCV000730173 RCV004537716
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 SubmittersRCV000302711 RCV003765794
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 SubmittersRCV000275970 RCV001070370
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 SubmittersRCV000272713 RCV002056204
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 SubmittersRCV000333248 RCV001450241
NM_025237.3(SOST):c.153G>A (p.Glu51=)	SNV Germline	Chr17:43758589	Conflicting classifications of pathogenicity	Sclerosteosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8592859	rs_150640883	2 SubmittersRCV000390673 RCV002522975
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 SubmittersRCV000578727 RCV002496888
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 SubmittersRCV000521557 RCV001068938 RCV001104051 RCV002525181
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 SubmittersRCV000593875 RCV001088697 RCV004530654
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 SubmittersRCV000592442 RCV001079240 RCV004530656
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 SubmittersRCV000643991 RCV001104142 RCV003392485 RCV004544864
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 SubmittersRCV001107949 RCV002060751
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 SubmittersRCV000643975 RCV003129960 RCV004533364 RCV003243230
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 SubmittersRCV000874686 RCV001107777
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 SubmittersRCV000874652 RCV001104448
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 SubmittersRCV000952048 RCV001104052
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 SubmittersRCV000951661 RCV001107851 RCV001311760 RCV004533652
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 SubmittersRCV000960730 RCV001107293
NM_025237.3(SOST):c.177G>A (p.Ala59=)	SNV Germline	Chr17:43758565	Conflicting classifications of pathogenicity	Condition: not provided Sclerosteosis 1	Criteria Provided Conflicting Classifications		rs_201706408	2 SubmittersRCV000942485 RCV001122499
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 SubmittersRCV001107205 RCV001421601 RCV004545063
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 SubmittersRCV001104533 RCV002069728
NM_025237.3(SOST):c.303C>T (p.Thr101=)	SNV Germline	Chr17:43755681	Conflicting classifications of pathogenicity	Sclerosteosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_758794256	2 SubmittersRCV001122498 RCV002556640
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 SubmittersRCV001335020 RCV002070197
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 SubmittersRCV001770790 RCV002032856
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 SubmittersRCV001783614 RCV002541153
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 SubmittersRCV001983200 RCV003481221
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 SubmittersRCV002043767 RCV003332374
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 SubmittersRCV002119563 RCV002224144
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_025237.3(SOST):c.327C>A (p.Cys109Ter)	SNV Germline	Chr17:43755657	Likely pathogenic	Sclerosteosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003334334
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

NM_025237.3(SOST):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr17:43758672

Pathogenic

Sclerosteosis 1

No Assertion Criteria Provided

CA253289

rs_387906320

1 SubmittersRCV000005049

NM_025237.3(SOST):c.372G>A (p.Trp124Ter)

SNV
Germline

Chr17:43755612

Pathogenic

Sclerosteosis 1

Criteria Provided
Single Submitter

CA253291

rs_104894644

3 SubmittersRCV000005051

NM_025237.3(SOST):c.376C>T (p.Arg126Ter)

SNV
Germline

Chr17:43755608

Pathogenic

Sclerosteosis 1

No Assertion Criteria Provided

CA253293

rs_104894645

2 SubmittersRCV000005052

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 SubmittersRCV000006041 RCV002496277

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 SubmittersRCV000006043 RCV001379445

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 SubmittersRCV000023363 RCV000490108 RCV000800068

NM_002334.4(LRP4):c.3508C>T (p.Arg1170Trp)

SNV
Germline

Chr11:46876494

Pathogenic

Sclerosteosis 2

No Assertion Criteria Provided

CA129195

rs_387906884

1 SubmittersRCV000023364

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 SubmittersRCV000174518 RCV000528569 RCV001083066 RCV001107848

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 SubmittersRCV000192848 RCV000555565 RCV001657981 RCV001107104

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 SubmittersRCV000338344 RCV001107294 RCV001086389

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 SubmittersRCV000360139 RCV000524562 RCV001107019 RCV004535290 RCV004567827

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 SubmittersRCV000284635 RCV002059153

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 SubmittersRCV000376467 RCV001088893 RCV004543072

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 SubmittersRCV000393021 RCV000394052 RCV001087525 RCV004543088

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 SubmittersRCV000401452 RCV001084755 RCV001102613

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 SubmittersRCV000306777 RCV000549519 RCV001107206

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 SubmittersRCV000343970 RCV001483329 RCV003129827

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 SubmittersRCV000354293 RCV000876033 RCV004537714 RCV003391075 RCV001820901

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 SubmittersRCV000734104 RCV000288021 RCV001082274 RCV002522198 RCV001820902

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 SubmittersRCV000382105 RCV002056203

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 SubmittersRCV000340313 RCV002056206

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 SubmittersRCV000260468 RCV002056205

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 SubmittersRCV000875312 RCV000401700

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 SubmittersRCV000267197 RCV000874022

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 SubmittersRCV000284639 RCV001472786

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 SubmittersRCV000399500 RCV003765793

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 SubmittersRCV000302037 RCV000876160 RCV004537717

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 SubmittersRCV000536074 RCV000394958 RCV004544514

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 SubmittersRCV000361080 RCV001088254 RCV000730173 RCV004537716

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 SubmittersRCV000302711 RCV003765794

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 SubmittersRCV000275970 RCV001070370

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 SubmittersRCV000272713 RCV002056204

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 SubmittersRCV000333248 RCV001450241

NM_025237.3(SOST):c.153G>A (p.Glu51=)

SNV
Germline

Chr17:43758589

Conflicting classifications of pathogenicity

Sclerosteosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8592859

rs_150640883

2 SubmittersRCV000390673 RCV002522975

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 SubmittersRCV000578727 RCV002496888

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 SubmittersRCV000521557 RCV001068938 RCV001104051 RCV002525181

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 SubmittersRCV000593875 RCV001088697 RCV004530654

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 SubmittersRCV000592442 RCV001079240 RCV004530656

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 SubmittersRCV000643991 RCV001104142 RCV003392485 RCV004544864

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 SubmittersRCV001107949 RCV002060751

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 SubmittersRCV000643975 RCV003129960 RCV004533364 RCV003243230

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 SubmittersRCV000874686 RCV001107777

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 SubmittersRCV000874652 RCV001104448

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 SubmittersRCV000952048 RCV001104052

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 SubmittersRCV000951661 RCV001107851 RCV001311760 RCV004533652

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 SubmittersRCV000960730 RCV001107293

NM_025237.3(SOST):c.177G>A (p.Ala59=)

SNV
Germline

Chr17:43758565

Conflicting classifications of pathogenicity

Condition: not provided
Sclerosteosis 1

Criteria Provided
Conflicting Classifications

rs_201706408

2 SubmittersRCV000942485 RCV001122499

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 SubmittersRCV001107205 RCV001421601 RCV004545063

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 SubmittersRCV001104533 RCV002069728

NM_025237.3(SOST):c.303C>T (p.Thr101=)

SNV
Germline

Chr17:43755681

Conflicting classifications of pathogenicity

Sclerosteosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758794256

2 SubmittersRCV001122498 RCV002556640

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 SubmittersRCV001335020 RCV002070197

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 SubmittersRCV001770790 RCV002032856

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 SubmittersRCV001783614 RCV002541153

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 SubmittersRCV001983200 RCV003481221

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 SubmittersRCV002043767 RCV003332374

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 SubmittersRCV002119563 RCV002224144

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_025237.3(SOST):c.327C>A (p.Cys109Ter)

SNV
Germline

Chr17:43755657

Likely pathogenic

Sclerosteosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334334

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