Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005529.7(HSPG2):c.8464+4A>G	SNV Germline	Chr1:21846104	Pathogenic	Schwartz-Jampel syndrome type 1	No Assertion Criteria Provided	CA913185101	rs_1572204991	1 SubmittersRCV001800293
NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr)	SNV Germline	Chr1:21864874	Pathogenic	Schwartz-Jampel syndrome type 1	No Assertion Criteria Provided	CA124452	rs_137853248	1 SubmittersRCV001800294
NM_005529.7(HSPG2):c.7294+4A>G	SNV Germline	Chr1:21850359	Pathogenic	Schwartz-Jampel syndrome type 1	No Assertion Criteria Provided	CA913185100	rs_1572220282	1 SubmittersRCV001800295
NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr)	SNV Germline	Chr1:21846108	Pathogenic	Schwartz-Jampel syndrome type 1	No Assertion Criteria Provided	CA670782	rs_748523693	1 SubmittersRCV001800297
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)	SNV Germline	Chr1:21880484	Conflicting classifications of pathogenicity	not specified Schwartz-Jampel syndrome Condition: not provided Connective tissue disorder Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA201276	rs_143669458	10 SubmittersRCV000175061 RCV000388323 RCV000757384 RCV002277349 RCV000352369
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)	SNV Germline	Chr1:21861796	Conflicting classifications of pathogenicity	not specified Schwartz-Jampel syndrome Condition: not provided HSPG2-related disorder Lethal Kniest-like syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA245018	rs_142433309	13 SubmittersRCV000178005 RCV000191093 RCV000991336 RCV004537456 RCV001099320 RCV005625379
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)	SNV Germline	Chr1:21850049	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA246472	rs_143437991	5 SubmittersRCV000179196 RCV000259625 RCV000370645
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)	SNV Germline	Chr1:21831302	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome not specified Connective tissue disorder	Criteria Provided Conflicting Classifications	CA247892	rs_111866498	8 SubmittersRCV000180423 RCV000270486 RCV000325486 RCV001289451 RCV002277431
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)	SNV Germline	Chr1:21824146	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome HSPG2-related disorder not specified	Criteria Provided Conflicting Classifications	CA248339	rs_141280063	7 SubmittersRCV000711912 RCV001101423 RCV001101422 RCV004539697 RCV004998388
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)	SNV Germline	Chr1:21865798	Conflicting classifications of pathogenicity	Childhood-onset schizophrenia Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA210461	rs_745452577	2 SubmittersRCV000202344 RCV000336696 RCV000284010
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	SNV Germline	Chr1:21879108	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome Connective tissue disorder not specified	Criteria Provided Conflicting Classifications	CA250356	rs_143736974	8 SubmittersRCV000191094 RCV000883656 RCV001098138 RCV002277446 RCV004998401
NM_005529.7(HSPG2):c.7006+1G>A	SNV Germline	Chr1:21851790	Pathogenic/Likely pathogenic	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588283	rs_778653296	3 SubmittersRCV000254867 RCV002487170
NM_005529.7(HSPG2):c.4740+5G>A	SNV Germline	Chr1:21864095	Likely pathogenic	Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA10588984	rs_886039909	1 SubmittersRCV000256461
NM_005529.7(HSPG2):c.2558+10A>G	SNV Germline	Chr1:21878567	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA673008	rs_756733330	3 SubmittersRCV000318036 RCV001101810 RCV001101811
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)	SNV Germline	Chr1:21842330	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA670601	rs_369899077	7 SubmittersRCV000277852 RCV000297842 RCV000370440 RCV004535318
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)	SNV Germline	Chr1:21855840	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome not specified Schwartz-Jampel syndrome Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA671844	rs_140954748	9 SubmittersRCV000278295 RCV000376732 RCV000372843 RCV000725443 RCV000765077 RCV004535319
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)	SNV Germline	Chr1:21844159	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome HSPG2-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA670729	rs_139838884	8 SubmittersRCV000296341 RCV000352198 RCV000401011 RCV004535332 RCV004021165 RCV004999219
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)	SNV Germline	Chr1:21848005	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome HSPG2-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA671046	rs_147286334	6 SubmittersRCV000280103 RCV000332928 RCV000372364 RCV004535333 RCV004021166 RCV004999220
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)	SNV Germline	Chr1:21852969	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome Inborn genetic diseases not specified HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA671511	rs_143109401	8 SubmittersRCV000259556 RCV000387513 RCV000354393 RCV002518950 RCV004999221 RCV004535334
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	SNV Germline	Chr1:21864868	Conflicting classifications of pathogenicity	not specified Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome Connective tissue disorder HSPG2-related disorder Multiple congenital anomalies/dysmorphic syndrome	Criteria Provided Conflicting Classifications	CA672218	rs_142736845	10 SubmittersRCV000320580 RCV000765078 RCV000726026 RCV001097664 RCV001097665 RCV002278305 RCV004535386 RCV005625512
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)	SNV Germline	Chr1:21851618	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Connective tissue disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA671317	rs_139001173	7 SubmittersRCV000308338 RCV000362986 RCV002278308 RCV000367179 RCV000895489
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)	SNV Germline	Chr1:21834887	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA670095	rs_55875654	6 SubmittersRCV000260219 RCV000320024 RCV000726246 RCV004999241
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)	SNV Germline	Chr1:21836970	Conflicting classifications of pathogenicity	not specified Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA670199	rs_200225298	7 SubmittersRCV000369617 RCV000726320 RCV001096488 RCV001096489 RCV002522005
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)	SNV Germline	Chr1:21850422	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome Schwartz-Jampel syndrome not specified	Criteria Provided Conflicting Classifications	CA671265	rs_146309392	10 SubmittersRCV000285449 RCV000711940 RCV000340372 RCV000765076 RCV004999245
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)	SNV Germline	Chr1:21878207	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672928	rs_560919408	3 SubmittersRCV000280928 RCV000349972 RCV000408330
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=)	SNV Germline	Chr1:21836885	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA670181	rs_762130127	2 SubmittersRCV000346554 RCV001466975 RCV000398416
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)	SNV Germline	Chr1:21839967	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided HSPG2-related disorder Lethal Kniest-like syndrome not specified Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA670399	rs_149644947	11 SubmittersRCV000274765 RCV001348418 RCV004543166 RCV000367014 RCV000414737 RCV005396923 RCV002522108
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)	SNV Germline	Chr1:21842781	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Inborn genetic diseases Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA670628	rs_143274889	8 SubmittersRCV000265382 RCV000322836 RCV002520431 RCV000731075 RCV002252089
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	SNV Germline	Chr1:21823347	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome HSPG2-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA669117	rs_116316900	6 SubmittersRCV000299146 RCV000407722 RCV004543163 RCV004021422 RCV002059437
NM_005529.7(HSPG2):c.7107T>C (p.His2369=)	SNV Germline	Chr1:21851597	Conflicting classifications of pathogenicity	not specified Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA671312	rs_150126997	4 SubmittersRCV001001911 RCV000272425 RCV000366911 RCV002059441
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=)	SNV Germline	Chr1:21851831	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA671364	rs_565594406	2 SubmittersRCV000319693 RCV004725151 RCV000374302
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)	SNV Germline	Chr1:21851870	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA671373	rs_552716935	4 SubmittersRCV000295623 RCV000389838 RCV000517794 RCV001812780
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)	SNV Germline	Chr1:21829000	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA669529	rs_146167897	6 SubmittersRCV000286587 RCV000711906 RCV000380314
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)	SNV Germline	Chr1:21829548	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided not specified HSPG2-related disorder Connective tissue disorder	Criteria Provided Conflicting Classifications	CA669606	rs_116630187	10 SubmittersRCV000287593 RCV000347270 RCV000757386 RCV000999873 RCV004537645 RCV002278344
NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=)	SNV Germline	Chr1:21829549	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669607	rs_760805332	2 SubmittersRCV000293318 RCV000399868 RCV003765720
NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=)	SNV Germline	Chr1:21852776	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA671465	rs_756830539	2 SubmittersRCV000302943 RCV003765721 RCV000357776
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)	SNV Germline	Chr1:21854758	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA671644	rs_150129885	6 SubmittersRCV000285675 RCV000340600 RCV000591049 RCV001642909
NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=)	SNV Germline	Chr1:21833582	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669994	rs_576324046	2 SubmittersRCV000316234 RCV000375479 RCV002520424
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=)	SNV Germline	Chr1:21855385	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome HSPG2-related disorder Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA671745	rs_147669915	3 SubmittersRCV000913179 RCV000284652 RCV004537650 RCV000379311
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=)	SNV Germline	Chr1:21861825	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA672131	rs_745452531	2 SubmittersRCV000275777 RCV003765723 RCV000333233
NM_005529.7(HSPG2):c.3003+14G>A	SNV Germline	Chr1:21876215	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672795	rs_369278427	2 SubmittersRCV000276512 RCV000326903 RCV003765725
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)	SNV Germline	Chr1:21880115	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Inborn genetic diseases Condition: not provided Lethal Kniest-like syndrome not specified Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA673113	rs_149094407	7 SubmittersRCV000267821 RCV002520442 RCV000516428 RCV000357849 RCV004999266 RCV005396925
NM_005529.7(HSPG2):c.10355+13G>A	SNV Germline	Chr1:21836789	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA670164	rs_749712460	2 SubmittersRCV000321357 RCV002059438 RCV000380661
NM_005529.7(HSPG2):c.959-7C>T	SNV Germline	Chr1:21887341	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA673628	rs_529027225	2 SubmittersRCV000922869 RCV000286657 RCV000376456
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)	SNV Germline	Chr1:21836953	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670195	rs_150666616	4 SubmittersRCV000267507 RCV000322617 RCV000757387
NM_005529.7(HSPG2):c.64-12G>A	SNV Germline	Chr1:21896322	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA10609191	rs_777907037	2 SubmittersRCV000305912 RCV003765727 RCV000397409
NM_005529.7(HSPG2):c.7158+11G>A	SNV Germline	Chr1:21851535	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA671297	rs_374680668	2 SubmittersRCV000312342 RCV000400939 RCV002059440
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=)	SNV Germline	Chr1:21857157	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA671927	rs_140134749	4 SubmittersRCV000516229 RCV000310456 RCV000395823
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=)	SNV Germline	Chr1:21865732	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA672326	rs_768475262	2 SubmittersRCV000916164 RCV000323829 RCV000376156
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)	SNV Germline	Chr1:21823487	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669154	rs_568526447	2 SubmittersRCV000271724 RCV000310401 RCV002520421
NM_005529.7(HSPG2):c.13004-5G>A	SNV Germline	Chr1:21823493	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Inborn genetic diseases Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA669155	rs_376645617	8 SubmittersRCV000270641 RCV000362875 RCV002520422 RCV005016689 RCV000900687 RCV002278339
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)	SNV Germline	Chr1:21824335	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA669290	rs_141936971	5 SubmittersRCV000307964 RCV000369633 RCV002278341 RCV000711911
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=)	SNV Germline	Chr1:21831085	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome HSPG2-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA669716	rs_200221194	6 SubmittersRCV000306105 RCV000360892 RCV004543164 RCV000942417 RCV005348099
NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=)	SNV Germline	Chr1:21835628	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670150	rs_189103460	3 SubmittersRCV000266097 RCV000356102 RCV001171755
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	SNV Germline	Chr1:21833291	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome not specified Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA669942	rs_149159881	10 SubmittersRCV000269036 RCV000363706 RCV000507550 RCV000765074 RCV000948533 RCV004537646
NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln)	SNV Germline	Chr1:21839490	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA670336	rs_202018841	4 SubmittersRCV000303142 RCV000399869 RCV001302602 RCV004021423
NM_005529.7(HSPG2):c.9710-10G>A	SNV Germline	Chr1:21839560	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA670352	rs_369434104	3 SubmittersRCV000271215 RCV000899897 RCV000309903
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)	SNV Germline	Chr1:21844188	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670735	rs_139855779	5 SubmittersRCV000298518 RCV000355753 RCV000992149
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile)	SNV Germline	Chr1:21834781	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA670068	rs_372760688	3 SubmittersRCV000306473 RCV005365233 RCV000347343 RCV002520425
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)	SNV Germline	Chr1:21836877	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome HSPG2-related disorder not specified Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA670179	rs_142939330	9 SubmittersRCV000291620 RCV000974827 RCV000381320 RCV004543165 RCV001283519 RCV005396922
NM_005529.7(HSPG2):c.8759-13C>T	SNV Germline	Chr1:21842934	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670660	rs_139605410	2 SubmittersRCV000344964 RCV000383153 RCV002059439
NM_005529.7(HSPG2):c.8026-10G>T	SNV Germline	Chr1:21847502	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670950	rs_377601366	2 SubmittersRCV000272785 RCV000365500 RCV002520432
NM_005529.7(HSPG2):c.7294+9C>A	SNV Germline	Chr1:21850354	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10609991	rs_886046031	2 SubmittersRCV000380021 RCV000325341 RCV003105858
NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=)	SNV Germline	Chr1:21846208	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670800	rs_377366418	2 SubmittersRCV000332155 RCV000389092 RCV005090426
NM_005529.7(HSPG2):c.8026-10G>A	SNV Germline	Chr1:21847502	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA670951	rs_377601366	2 SubmittersRCV000972574 RCV000330729 RCV000369019
NM_005529.7(HSPG2):c.4868+10C>G	SNV Germline	Chr1:21861978	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA10610011	rs_886046035	2 SubmittersRCV000384283 RCV003669126 RCV000327452
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=)	SNV Germline	Chr1:21864193	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided Connective tissue disorder not specified HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA672197	rs_148362276	5 SubmittersRCV000283546 RCV000395502 RCV000918538 RCV002278372 RCV000517868 RCV004543167
NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=)	SNV Germline	Chr1:21864894	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA672224	rs_140056847	3 SubmittersRCV000313928 RCV000390150 RCV000912426 RCV004999261
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)	SNV Germline	Chr1:21864980	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome HSPG2-related disorder not specified	Criteria Provided Conflicting Classifications	CA672259	rs_138460117	6 SubmittersRCV000331857 RCV000907630 RCV000365542 RCV004537651 RCV004999262
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)	SNV Germline	Chr1:21864981	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome not specified Lethal Kniest-like syndrome Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA672260	rs_372318754	6 SubmittersRCV000273324 RCV000518694 RCV000325999 RCV000880307 RCV002278373
NM_005529.7(HSPG2):c.6660G>C (p.Val2220=)	SNV Germline	Chr1:21852764	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA671462	rs_368431013	2 SubmittersRCV000389945 RCV000360993 RCV002522112
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)	SNV Germline	Chr1:21872704	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome not specified Condition: not provided Connective tissue disorder Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA672416	rs_72866991	7 SubmittersRCV000309327 RCV000595217 RCV000964103 RCV002278374 RCV000400505
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met)	SNV Germline	Chr1:21854286	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided not specified Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA671591	rs_146462440	5 SubmittersRCV000290427 RCV000938965 RCV004999259 RCV005016690 RCV000384775
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)	SNV Germline	Chr1:21857382	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome not specified Lethal Kniest-like syndrome Connective tissue disorder Condition: not provided HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA671964	rs_139794766	7 SubmittersRCV000304366 RCV000517424 RCV000361371 RCV002278371 RCV000658125 RCV004734951
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)	SNV Germline	Chr1:21859902	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA672055	rs_370558075	3 SubmittersRCV000303262 RCV000597364 RCV000399765
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=)	SNV Germline	Chr1:21865804	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA672339	rs_369731617	2 SubmittersRCV000278237 RCV003765724 RCV000394542
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=)	SNV Germline	Chr1:21873936	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672542	rs_572839851	3 SubmittersRCV000263055 RCV000374241 RCV000894526
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=)	SNV Germline	Chr1:21874492	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA10610030	rs_886046036	2 SubmittersRCV000306404 RCV000885735 RCV000344965
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=)	SNV Germline	Chr1:21875724	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10610035	rs_886046038	3 SubmittersRCV000289752 RCV000381805 RCV002059443
NM_005529.7(HSPG2):c.2685+6C>T	SNV Germline	Chr1:21878180	Conflicting classifications of pathogenicity	not specified Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672917	rs_189296705	3 SubmittersRCV004999265 RCV000334601 RCV000394399 RCV000918648
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=)	SNV Germline	Chr1:21874471	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA672597	rs_544392697	2 SubmittersRCV000346027 RCV000915462 RCV000395984
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=)	SNV Germline	Chr1:21878482	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10610060	rs_886046042	2 SubmittersRCV000365720 RCV000306302 RCV002520441
NM_005529.7(HSPG2):c.3183+10A>T	SNV Germline	Chr1:21875853	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome not specified	Criteria Provided Conflicting Classifications	CA672750	rs_368807853	3 SubmittersRCV000395214 RCV001433238 RCV000342289 RCV004999264
NM_005529.7(HSPG2):c.1654+15G>A	SNV Germline	Chr1:21884513	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10610077	rs_886046043	2 SubmittersRCV000331762 RCV000386233 RCV003556313
NM_005529.7(HSPG2):c.958+14G>A	SNV Germline	Chr1:21887406	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA673644	rs_200930800	3 SubmittersRCV000322882 RCV000372886 RCV002059444
NM_005529.7(HSPG2):c.878G>A (p.Arg293His)	SNV Germline	Chr1:21887500	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Inborn genetic diseases Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA673672	rs_139873789	6 SubmittersRCV000348836 RCV000394379 RCV002520447 RCV005016692 RCV000711946 RCV000765081
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr)	SNV Germline	Chr1:21884657	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome not specified Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA673395	rs_142071466	6 SubmittersRCV000887329 RCV000383784 RCV000591375 RCV000347946
NM_005529.7(HSPG2):c.1508-9G>A	SNV Germline	Chr1:21884683	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA673406	rs_538216424	2 SubmittersRCV000284500 RCV000339579 RCV001439947
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro)	SNV Germline	Chr1:21887608	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA673709	rs_149319607	7 SubmittersRCV000266127 RCV000365315 RCV001367619 RCV005008273 RCV002520448
NM_005529.7(HSPG2):c.245-11C>T	SNV Germline	Chr1:21890705	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA673953	rs_377063208	2 SubmittersRCV000346683 RCV000397419 RCV003765726
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)	SNV Germline	Chr1:21859668	Conflicting classifications of pathogenicity	Condition: not provided not specified Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA672018	rs_201491948	5 SubmittersRCV000498978 RCV004999544 RCV005398718
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)	SNV Germline	Chr1:21823459	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA669145	rs_148788926	6 SubmittersRCV000518544 RCV001095861 RCV001095862
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)	SNV Germline	Chr1:21873961	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome Connective tissue disorder HSPG2-related disorder Multiple congenital anomalies/dysmorphic syndrome	Criteria Provided Conflicting Classifications	CA672546	rs_113652076	12 SubmittersRCV000710146 RCV001096080 RCV001096081 RCV002279305 RCV004537844 RCV005625658
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)	SNV Germline	Chr1:21887646	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome not specified Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA673720	rs_139842104	6 SubmittersRCV000595805 RCV001102198 RCV001644700 RCV001102197
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)	SNV Germline	Chr1:21860220	Conflicting classifications of pathogenicity	Condition: not provided not specified Schwartz-Jampel syndrome Lethal Kniest-like syndrome HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA672092	rs_138459752	6 SubmittersRCV000594640 RCV001001901 RCV001099318 RCV001099319 RCV004530677
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	SNV Germline	Chr1:21823474	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Condition: not provided Schwartz-Jampel syndrome Connective tissue disorder Inborn genetic diseases HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA669150	rs_145687082	10 SubmittersRCV001095866 RCV000711913 RCV001095865 RCV002279380 RCV002532468 RCV004543354
NM_005529.7(HSPG2):c.11208-7G>A	SNV Germline	Chr1:21831803	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA521587734	rs_1336552092	3 SubmittersRCV000593717 RCV001261555 RCV001824152
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)	SNV Germline	Chr1:21844210	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome not specified	Criteria Provided Conflicting Classifications	CA670741	rs_199942544	5 SubmittersRCV000711945 RCV001100314 RCV001100315 RCV001000671
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)	SNV Germline	Chr1:21828877	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA669503	rs_573932867	5 SubmittersRCV000731706 RCV001101519 RCV001101520 RCV002485898
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=)	SNV Germline	Chr1:21831004	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA669698	rs_367617288	3 SubmittersRCV000954837 RCV001101625 RCV001101626
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=)	SNV Germline	Chr1:21847758	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA670990	rs_145265774	3 SubmittersRCV000954064 RCV001096986 RCV001096987
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)	SNV Germline	Chr1:21823404	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA669132	rs_62642502	5 SubmittersRCV000973271 RCV001101309 RCV001101310 RCV004535973
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	SNV Germline	Chr1:21824136	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA669251	rs_537908254	6 SubmittersRCV000970693 RCV001101420 RCV001101421 RCV002548349
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)	SNV Germline	Chr1:21841540	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA670489	rs_61743674	5 SubmittersRCV000961262 RCV001102113 RCV001102114
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)	SNV Germline	Chr1:21838950	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA670252	rs_570850437	3 SubmittersRCV000895771 RCV003338846
NM_005529.7(HSPG2):c.8805C>T (p.His2935=)	SNV Germline	Chr1:21842875	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA670646	rs_201338722	2 SubmittersRCV000909550 RCV001096795 RCV001096796
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile)	SNV Germline	Chr1:21880550	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA673219	rs_147810145	3 SubmittersRCV000907173 RCV001096497 RCV001098246 RCV005392534
NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=)	SNV Germline	Chr1:21842099	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA670552	rs_749580877	2 SubmittersRCV000913902 RCV001096710 RCV001096709
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile)	SNV Germline	Chr1:21848774	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA671115	rs_372633230	2 SubmittersRCV000925730 RCV001100537 RCV001100538
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=)	SNV Germline	Chr1:21851585	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA671308	rs_764531754	3 SubmittersRCV000911428 RCV001100925 RCV001100926
NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=)	SNV Germline	Chr1:21862107	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA672173	rs_773098995	2 SubmittersRCV000921121 RCV001095867 RCV001095868
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=)	SNV Germline	Chr1:21879098	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA673090	rs_151039517	3 SubmittersRCV000923358 RCV001096394 RCV001096395
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=)	SNV Germline	Chr1:21884780	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA673447	rs_187648591	3 SubmittersRCV000937329 RCV001096600 RCV001096599
NM_005529.7(HSPG2):c.8616+9G>C	SNV Germline	Chr1:21844139	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA670722	rs_189754659	3 SubmittersRCV000927988 RCV001098544 RCV001098545
NM_005529.7(HSPG2):c.9890-4T>G	SNV Germline	Chr1:21839089	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA19103424	rs_770388964	2 SubmittersRCV000975364 RCV001100014 RCV001100015
NM_005529.7(HSPG2):c.8316+1G>A	SNV Germline	Chr1:21846447	Pathogenic/Likely pathogenic	Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA19112924	rs_927473035	2 SubmittersRCV000984521 RCV001379900
NM_005529.7(HSPG2):c.1654+5G>A	SNV Unknown	Chr1:21884523	Likely pathogenic	Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA915941169	rs_1572356343	1 SubmittersRCV000986276
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=)	SNV Germline	Chr1:21833362	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Conflicting Classifications	CA669952	rs_147966644	3 SubmittersRCV000993937 RCV001096295 RCV001096296
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln)	SNV Germline	Chr1:21876591	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome type 1 Lethal Kniest-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA672883	rs_369313904	3 SubmittersRCV001044890 RCV002505578 RCV004986756
NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)	SNV Germline	Chr1:21828408	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669476	rs_146179360	4 SubmittersRCV001099538 RCV001099539 RCV001545775
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His)	SNV Germline	Chr1:21828851	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA669498	rs_376190109	3 SubmittersRCV001099541 RCV001099540 RCV001873488 RCV002556016
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	SNV Germline	Chr1:21828962	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA669518	rs_143015575	5 SubmittersRCV001811656 RCV001101524 RCV001101523 RCV004734014
NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=)	SNV Germline	Chr1:21830051	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669663	rs_145093233	2 SubmittersRCV001097839 RCV001097838 RCV005056883
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=)	SNV Germline	Chr1:21832515	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669893	rs_2229487	2 SubmittersRCV001099734 RCV001099735 RCV001873489
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)	SNV Germline	Chr1:21834790	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA670074	rs_145048530	5 SubmittersRCV001323075 RCV001101806 RCV001101807 RCV002554980
NM_005529.7(HSPG2):c.9594G>A (p.Val3198=)	SNV Germline	Chr1:21839937	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA416547197	rs_1460932486	2 SubmittersRCV001098332 RCV001098333 RCV001484023
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=)	SNV Germline	Chr1:21842261	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA670586	rs_202067055	3 SubmittersRCV001098441 RCV001098442 RCV003727849 RCV004545057
NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=)	SNV Germline	Chr1:21842267	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670588	rs_763389929	2 SubmittersRCV001098443 RCV001098444 RCV002554925
NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=)	SNV Germline	Chr1:21842833	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670641	rs_371076634	2 SubmittersRCV001096794 RCV001096793 RCV001449286
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)	SNV Germline	Chr1:21847354	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670902	rs_201508804	3 SubmittersRCV001100423 RCV001100424 RCV002069688
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=)	SNV Germline	Chr1:21847367	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670910	rs_140067347	3 SubmittersRCV001100428 RCV001100427 RCV001856365
NM_005529.7(HSPG2):c.7954G>A (p.Val2652Met)	SNV Germline	Chr1:21847760	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670991	rs_190732238	2 SubmittersRCV001096988 RCV001096989 RCV002069635
NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)	SNV Germline	Chr1:21853018	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided HSPG2-related disorder	Criteria Provided Conflicting Classifications	CA671524	rs_752099132	3 SubmittersRCV001101017 RCV001101018 RCV002554971 RCV004536152
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=)	SNV Germline	Chr1:21853042	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA671533	rs_369970075	4 SubmittersRCV001097288 RCV001097289 RCV002069641 RCV004998646
NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=)	SNV Germline	Chr1:21864918	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672234	rs_142288625	3 SubmittersRCV001099432 RCV001099431 RCV002554939
NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser)	SNV Germline	Chr1:21872272	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA672362	rs_778185997	3 SubmittersRCV001099544 RCV001099545 RCV002069671 RCV004998648
NM_005529.7(HSPG2):c.3543C>T (p.His1181=)	SNV Germline	Chr1:21874519	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672608	rs_375029322	3 SubmittersRCV001101629 RCV001101630 RCV002069702
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=)	SNV Germline	Chr1:21874948	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672680	rs_765575912	2 SubmittersRCV001101631 RCV001101632 RCV002556044
NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser)	SNV Germline	Chr1:21875892	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672756	rs_544172715	2 SubmittersRCV001099738 RCV001099739 RCV002069679
NM_005529.7(HSPG2):c.12745-9C>T	SNV Germline	Chr1:21824385	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA521900767	rs_1459647807	2 SubmittersRCV001095960 RCV001095961 RCV003769041
NM_005529.7(HSPG2):c.11671+11C>T	SNV Germline	Chr1:21830971	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA669689	rs_368204073	3 SubmittersRCV001099644 RCV001099643 RCV002067756
NM_005529.7(HSPG2):c.9890-7C>A	SNV Germline	Chr1:21839092	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA670281	rs_377609659	2 SubmittersRCV001101999 RCV001101998 RCV001856391
NM_005529.7(HSPG2):c.5701+9G>A	SNV Germline	Chr1:21855778	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Lethal Kniest-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA671825	rs_549778143	2 SubmittersRCV001099211 RCV001099212 RCV002069667
NM_005529.7(HSPG2):c.5701+8C>T	SNV Germline	Chr1:21855779	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA671827	rs_370899852	3 SubmittersRCV001101213 RCV001101212 RCV002069696 RCV004689990
NM_005529.7(HSPG2):c.4740+14G>A	SNV Germline	Chr1:21864086	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA672188	rs_370407461	2 SubmittersRCV001095869 RCV001095870 RCV002069617
NM_005529.7(HSPG2):c.4396-12C>A	SNV Germline	Chr1:21865085	Conflicting classifications of pathogenicity	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome	Criteria Provided Conflicting Classifications	CA672280	rs_747704697	2 SubmittersRCV001095966 RCV002069618 RCV001095967
NM_005529.7(HSPG2):c.1508-15C>T	SNV Germline	Chr1:21884689	Conflicting classifications of pathogenicity	Lethal Kniest-like syndrome Schwartz-Jampel syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA673409	rs_750306743	2 SubmittersRCV001096597 RCV001096598 RCV005056881
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)	SNV Germline	Chr1:21885405	Likely pathogenic	Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA338967676	rs_543805444	1 SubmittersRCV001248829
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	SNV Germline	Chr1:21839005	Likely pathogenic	Schwartz-Jampel syndrome Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA338912092	rs_1294413650	4 SubmittersRCV001261556 RCV001597262 RCV001824170 RCV003989665
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)	SNV Unknown	Chr1:21839017	Likely pathogenic	Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA338912144	rs_2098038156	1 SubmittersRCV001331411
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=)	SNV Germline	Chr1:21830012	Conflicting classifications of pathogenicity	Condition: not provided Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA669649	rs_144447618	2 SubmittersRCV001359291 RCV002504588
NM_005529.7(HSPG2):c.4955+3A>T	SNV Unknown	Chr1:21861754	Likely pathogenic	Lethal Kniest-like syndrome Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA672110	rs_769130391	1 SubmittersRCV001726530
NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)	SNV Germline	Chr1:21830033	Likely pathogenic	Schwartz-Jampel syndrome	Criteria Provided Single Submitter	CA338902832	rs_1215934207	1 SubmittersRCV001420359
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln)	SNV Germline	Chr1:21859586	Conflicting classifications of pathogenicity	Condition: not provided Schwartz-Jampel syndrome type 1	Criteria Provided Conflicting Classifications	CA671993	rs_2229483	2 SubmittersRCV001982495 RCV003444067
NM_005529.7(HSPG2):c.4955+1G>C	SNV Germline	Chr1:21861756	Likely pathogenic	Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter	CA338949438	rs_139944523	1 SubmittersRCV002238697
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)	SNV Germline	Chr1:21857383	Likely pathogenic	Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter	CA338943512	rs_1239294172	1 SubmittersRCV003234962
NM_005529.7(HSPG2):c.12900-2A>G	SNV Germline	Chr1:21823721	Likely pathogenic	Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter	CA669217	rs_111306515	1 SubmittersRCV003388347
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)	SNV Germline	Chr1:21887263	Likely pathogenic	Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter	CA338968677	rs_2550800597	1 SubmittersRCV003444078
NM_005529.7(HSPG2):c.3994C>T (p.Gln1332Ter)	SNV Germline	Chr1:21872655	Pathogenic	Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004788595
NM_005529.7(HSPG2):c.8025+1G>A	SNV Germline	Chr1:21847688	Likely pathogenic	Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004796936
NM_005529.7(HSPG2):c.6288+1G>A	SNV Germline	Chr1:21854610	Likely pathogenic	Lethal Kniest-like syndrome Schwartz-Jampel syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005410204

SNV
Germline

Chr1:21846104

Pathogenic

Schwartz-Jampel syndrome type 1

No Assertion Criteria Provided

CA913185101

rs_1572204991

1 SubmittersRCV001800293

NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr)

SNV
Germline

Chr1:21864874

Pathogenic

Schwartz-Jampel syndrome type 1

No Assertion Criteria Provided

CA124452

rs_137853248

1 SubmittersRCV001800294

NM_005529.7(HSPG2):c.7294+4A>G

SNV
Germline

Chr1:21850359

Pathogenic

Schwartz-Jampel syndrome type 1

No Assertion Criteria Provided

CA913185100

rs_1572220282

1 SubmittersRCV001800295

NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr)

SNV
Germline

Chr1:21846108

Pathogenic

Schwartz-Jampel syndrome type 1

No Assertion Criteria Provided

CA670782

rs_748523693

1 SubmittersRCV001800297

NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)

SNV
Germline

Chr1:21880484

Conflicting classifications of pathogenicity

not specified
Schwartz-Jampel syndrome
Condition: not provided
Connective tissue disorder
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA201276

rs_143669458

10 SubmittersRCV000175061 RCV000388323 RCV000757384 RCV002277349 RCV000352369

NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)

SNV
Germline

Chr1:21861796

Conflicting classifications of pathogenicity

not specified
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder
Lethal Kniest-like syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA245018

rs_142433309

13 SubmittersRCV000178005 RCV000191093 RCV000991336 RCV004537456 RCV001099320 RCV005625379

NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)

SNV
Germline

Chr1:21850049

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA246472

rs_143437991

5 SubmittersRCV000179196 RCV000259625 RCV000370645

NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)

SNV
Germline

Chr1:21831302

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA247892

rs_111866498

8 SubmittersRCV000180423 RCV000270486 RCV000325486 RCV001289451 RCV002277431

NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)

SNV
Germline

Chr1:21824146

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
HSPG2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA248339

rs_141280063

7 SubmittersRCV000711912 RCV001101423 RCV001101422 RCV004539697 RCV004998388

NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)

SNV
Germline

Chr1:21865798

Conflicting classifications of pathogenicity

Childhood-onset schizophrenia
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA210461

rs_745452577

2 SubmittersRCV000202344 RCV000336696 RCV000284010

NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)

SNV
Germline

Chr1:21879108

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
Connective tissue disorder
not specified

Criteria Provided
Conflicting Classifications

CA250356

rs_143736974

8 SubmittersRCV000191094 RCV000883656 RCV001098138 RCV002277446 RCV004998401

NM_005529.7(HSPG2):c.7006+1G>A

SNV
Germline

Chr1:21851790

Pathogenic/Likely pathogenic

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588283

rs_778653296

3 SubmittersRCV000254867 RCV002487170

NM_005529.7(HSPG2):c.4740+5G>A

SNV
Germline

Chr1:21864095

Likely pathogenic

Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA10588984

rs_886039909

1 SubmittersRCV000256461

NM_005529.7(HSPG2):c.2558+10A>G

SNV
Germline

Chr1:21878567

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA673008

rs_756733330

3 SubmittersRCV000318036 RCV001101810 RCV001101811

NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)

SNV
Germline

Chr1:21842330

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA670601

rs_369899077

7 SubmittersRCV000277852 RCV000297842 RCV000370440 RCV004535318

NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)

SNV
Germline

Chr1:21855840

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
not specified
Schwartz-Jampel syndrome
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA671844

rs_140954748

9 SubmittersRCV000278295 RCV000376732 RCV000372843 RCV000725443 RCV000765077 RCV004535319

NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)

SNV
Germline

Chr1:21844159

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
HSPG2-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA670729

rs_139838884

8 SubmittersRCV000296341 RCV000352198 RCV000401011 RCV004535332 RCV004021165 RCV004999219

NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)

SNV
Germline

Chr1:21848005

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
HSPG2-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA671046

rs_147286334

6 SubmittersRCV000280103 RCV000332928 RCV000372364 RCV004535333 RCV004021166 RCV004999220

NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)

SNV
Germline

Chr1:21852969

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
Inborn genetic diseases
not specified
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA671511

rs_143109401

8 SubmittersRCV000259556 RCV000387513 RCV000354393 RCV002518950 RCV004999221 RCV004535334

NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)

SNV
Germline

Chr1:21864868

Conflicting classifications of pathogenicity

not specified
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Connective tissue disorder
HSPG2-related disorder
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA672218

rs_142736845

10 SubmittersRCV000320580 RCV000765078 RCV000726026 RCV001097664 RCV001097665 RCV002278305 RCV004535386 RCV005625512

NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)

SNV
Germline

Chr1:21851618

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Connective tissue disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671317

rs_139001173

7 SubmittersRCV000308338 RCV000362986 RCV002278308 RCV000367179 RCV000895489

NM_005529.7(HSPG2):c.10512C>T (p.His3504=)

SNV
Germline

Chr1:21834887

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA670095

rs_55875654

6 SubmittersRCV000260219 RCV000320024 RCV000726246 RCV004999241

NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)

SNV
Germline

Chr1:21836970

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA670199

rs_200225298

7 SubmittersRCV000369617 RCV000726320 RCV001096488 RCV001096489 RCV002522005

NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)

SNV
Germline

Chr1:21850422

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified

Criteria Provided
Conflicting Classifications

CA671265

rs_146309392

10 SubmittersRCV000285449 RCV000711940 RCV000340372 RCV000765076 RCV004999245

NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)

SNV
Germline

Chr1:21878207

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672928

rs_560919408

3 SubmittersRCV000280928 RCV000349972 RCV000408330

NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=)

SNV
Germline

Chr1:21836885

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA670181

rs_762130127

2 SubmittersRCV000346554 RCV001466975 RCV000398416

NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)

SNV
Germline

Chr1:21839967

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder
Lethal Kniest-like syndrome
not specified
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA670399

rs_149644947

11 SubmittersRCV000274765 RCV001348418 RCV004543166 RCV000367014 RCV000414737 RCV005396923 RCV002522108

NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)

SNV
Germline

Chr1:21842781

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Inborn genetic diseases
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA670628

rs_143274889

8 SubmittersRCV000265382 RCV000322836 RCV002520431 RCV000731075 RCV002252089

NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)

SNV
Germline

Chr1:21823347

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
HSPG2-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669117

rs_116316900

6 SubmittersRCV000299146 RCV000407722 RCV004543163 RCV004021422 RCV002059437

NM_005529.7(HSPG2):c.7107T>C (p.His2369=)

SNV
Germline

Chr1:21851597

Conflicting classifications of pathogenicity

not specified
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671312

rs_150126997

4 SubmittersRCV001001911 RCV000272425 RCV000366911 RCV002059441

NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=)

SNV
Germline

Chr1:21851831

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA671364

rs_565594406

2 SubmittersRCV000319693 RCV004725151 RCV000374302

NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)

SNV
Germline

Chr1:21851870

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671373

rs_552716935

4 SubmittersRCV000295623 RCV000389838 RCV000517794 RCV001812780

NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)

SNV
Germline

Chr1:21829000

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA669529

rs_146167897

6 SubmittersRCV000286587 RCV000711906 RCV000380314

NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)

SNV
Germline

Chr1:21829548

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
not specified
HSPG2-related disorder
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA669606

rs_116630187

10 SubmittersRCV000287593 RCV000347270 RCV000757386 RCV000999873 RCV004537645 RCV002278344

NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=)

SNV
Germline

Chr1:21829549

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669607

rs_760805332

2 SubmittersRCV000293318 RCV000399868 RCV003765720

NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=)

SNV
Germline

Chr1:21852776

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA671465

rs_756830539

2 SubmittersRCV000302943 RCV003765721 RCV000357776

NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)

SNV
Germline

Chr1:21854758

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA671644

rs_150129885

6 SubmittersRCV000285675 RCV000340600 RCV000591049 RCV001642909

NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=)

SNV
Germline

Chr1:21833582

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669994

rs_576324046

2 SubmittersRCV000316234 RCV000375479 RCV002520424

NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=)

SNV
Germline

Chr1:21855385

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
HSPG2-related disorder
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA671745

rs_147669915

3 SubmittersRCV000913179 RCV000284652 RCV004537650 RCV000379311

NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=)

SNV
Germline

Chr1:21861825

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA672131

rs_745452531

2 SubmittersRCV000275777 RCV003765723 RCV000333233

NM_005529.7(HSPG2):c.3003+14G>A

SNV
Germline

Chr1:21876215

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672795

rs_369278427

2 SubmittersRCV000276512 RCV000326903 RCV003765725

NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)

SNV
Germline

Chr1:21880115

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Inborn genetic diseases
Condition: not provided
Lethal Kniest-like syndrome
not specified
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA673113

rs_149094407

7 SubmittersRCV000267821 RCV002520442 RCV000516428 RCV000357849 RCV004999266 RCV005396925

NM_005529.7(HSPG2):c.10355+13G>A

SNV
Germline

Chr1:21836789

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA670164

rs_749712460

2 SubmittersRCV000321357 RCV002059438 RCV000380661

NM_005529.7(HSPG2):c.959-7C>T

SNV
Germline

Chr1:21887341

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA673628

rs_529027225

2 SubmittersRCV000922869 RCV000286657 RCV000376456

NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)

SNV
Germline

Chr1:21836953

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670195

rs_150666616

4 SubmittersRCV000267507 RCV000322617 RCV000757387

NM_005529.7(HSPG2):c.64-12G>A

SNV
Germline

Chr1:21896322

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA10609191

rs_777907037

2 SubmittersRCV000305912 RCV003765727 RCV000397409

NM_005529.7(HSPG2):c.7158+11G>A

SNV
Germline

Chr1:21851535

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671297

rs_374680668

2 SubmittersRCV000312342 RCV000400939 RCV002059440

NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=)

SNV
Germline

Chr1:21857157

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA671927

rs_140134749

4 SubmittersRCV000516229 RCV000310456 RCV000395823

NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=)

SNV
Germline

Chr1:21865732

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA672326

rs_768475262

2 SubmittersRCV000916164 RCV000323829 RCV000376156

NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)

SNV
Germline

Chr1:21823487

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669154

rs_568526447

2 SubmittersRCV000271724 RCV000310401 RCV002520421

NM_005529.7(HSPG2):c.13004-5G>A

SNV
Germline

Chr1:21823493

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA669155

rs_376645617

8 SubmittersRCV000270641 RCV000362875 RCV002520422 RCV005016689 RCV000900687 RCV002278339

NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)

SNV
Germline

Chr1:21824335

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669290

rs_141936971

5 SubmittersRCV000307964 RCV000369633 RCV002278341 RCV000711911

NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=)

SNV
Germline

Chr1:21831085

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
HSPG2-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA669716

rs_200221194

6 SubmittersRCV000306105 RCV000360892 RCV004543164 RCV000942417 RCV005348099

NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=)

SNV
Germline

Chr1:21835628

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670150

rs_189103460

3 SubmittersRCV000266097 RCV000356102 RCV001171755

NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)

SNV
Germline

Chr1:21833291

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA669942

rs_149159881

10 SubmittersRCV000269036 RCV000363706 RCV000507550 RCV000765074 RCV000948533 RCV004537646

NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln)

SNV
Germline

Chr1:21839490

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA670336

rs_202018841

4 SubmittersRCV000303142 RCV000399869 RCV001302602 RCV004021423

NM_005529.7(HSPG2):c.9710-10G>A

SNV
Germline

Chr1:21839560

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA670352

rs_369434104

3 SubmittersRCV000271215 RCV000899897 RCV000309903

NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)

SNV
Germline

Chr1:21844188

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670735

rs_139855779

5 SubmittersRCV000298518 RCV000355753 RCV000992149

NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile)

SNV
Germline

Chr1:21834781

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA670068

rs_372760688

3 SubmittersRCV000306473 RCV005365233 RCV000347343 RCV002520425

NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)

SNV
Germline

Chr1:21836877

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
HSPG2-related disorder
not specified
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA670179

rs_142939330

9 SubmittersRCV000291620 RCV000974827 RCV000381320 RCV004543165 RCV001283519 RCV005396922

NM_005529.7(HSPG2):c.8759-13C>T

SNV
Germline

Chr1:21842934

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670660

rs_139605410

2 SubmittersRCV000344964 RCV000383153 RCV002059439

NM_005529.7(HSPG2):c.8026-10G>T

SNV
Germline

Chr1:21847502

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670950

rs_377601366

2 SubmittersRCV000272785 RCV000365500 RCV002520432

NM_005529.7(HSPG2):c.7294+9C>A

SNV
Germline

Chr1:21850354

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10609991

rs_886046031

2 SubmittersRCV000380021 RCV000325341 RCV003105858

NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=)

SNV
Germline

Chr1:21846208

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670800

rs_377366418

2 SubmittersRCV000332155 RCV000389092 RCV005090426

NM_005529.7(HSPG2):c.8026-10G>A

SNV
Germline

Chr1:21847502

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA670951

rs_377601366

2 SubmittersRCV000972574 RCV000330729 RCV000369019

NM_005529.7(HSPG2):c.4868+10C>G

SNV
Germline

Chr1:21861978

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA10610011

rs_886046035

2 SubmittersRCV000384283 RCV003669126 RCV000327452

NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=)

SNV
Germline

Chr1:21864193

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Connective tissue disorder
not specified
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA672197

rs_148362276

5 SubmittersRCV000283546 RCV000395502 RCV000918538 RCV002278372 RCV000517868 RCV004543167

NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=)

SNV
Germline

Chr1:21864894

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA672224

rs_140056847

3 SubmittersRCV000313928 RCV000390150 RCV000912426 RCV004999261

NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)

SNV
Germline

Chr1:21864980

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
HSPG2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA672259

rs_138460117

6 SubmittersRCV000331857 RCV000907630 RCV000365542 RCV004537651 RCV004999262

NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)

SNV
Germline

Chr1:21864981

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
not specified
Lethal Kniest-like syndrome
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA672260

rs_372318754

6 SubmittersRCV000273324 RCV000518694 RCV000325999 RCV000880307 RCV002278373

NM_005529.7(HSPG2):c.6660G>C (p.Val2220=)

SNV
Germline

Chr1:21852764

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671462

rs_368431013

2 SubmittersRCV000389945 RCV000360993 RCV002522112

NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)

SNV
Germline

Chr1:21872704

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
not specified
Condition: not provided
Connective tissue disorder
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA672416

rs_72866991

7 SubmittersRCV000309327 RCV000595217 RCV000964103 RCV002278374 RCV000400505

NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met)

SNV
Germline

Chr1:21854286

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
not specified
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA671591

rs_146462440

5 SubmittersRCV000290427 RCV000938965 RCV004999259 RCV005016690 RCV000384775

NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)

SNV
Germline

Chr1:21857382

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
not specified
Lethal Kniest-like syndrome
Connective tissue disorder
Condition: not provided
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA671964

rs_139794766

7 SubmittersRCV000304366 RCV000517424 RCV000361371 RCV002278371 RCV000658125 RCV004734951

NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)

SNV
Germline

Chr1:21859902

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA672055

rs_370558075

3 SubmittersRCV000303262 RCV000597364 RCV000399765

NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=)

SNV
Germline

Chr1:21865804

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA672339

rs_369731617

2 SubmittersRCV000278237 RCV003765724 RCV000394542

NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=)

SNV
Germline

Chr1:21873936

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672542

rs_572839851

3 SubmittersRCV000263055 RCV000374241 RCV000894526

NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=)

SNV
Germline

Chr1:21874492

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA10610030

rs_886046036

2 SubmittersRCV000306404 RCV000885735 RCV000344965

NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=)

SNV
Germline

Chr1:21875724

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610035

rs_886046038

3 SubmittersRCV000289752 RCV000381805 RCV002059443

NM_005529.7(HSPG2):c.2685+6C>T

SNV
Germline

Chr1:21878180

Conflicting classifications of pathogenicity

not specified
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672917

rs_189296705

3 SubmittersRCV004999265 RCV000334601 RCV000394399 RCV000918648

NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=)

SNV
Germline

Chr1:21874471

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA672597

rs_544392697

2 SubmittersRCV000346027 RCV000915462 RCV000395984

NM_005529.7(HSPG2):c.2568C>T (p.Pro856=)

SNV
Germline

Chr1:21878482

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610060

rs_886046042

2 SubmittersRCV000365720 RCV000306302 RCV002520441

NM_005529.7(HSPG2):c.3183+10A>T

SNV
Germline

Chr1:21875853

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
not specified

Criteria Provided
Conflicting Classifications

CA672750

rs_368807853

3 SubmittersRCV000395214 RCV001433238 RCV000342289 RCV004999264

NM_005529.7(HSPG2):c.1654+15G>A

SNV
Germline

Chr1:21884513

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610077

rs_886046043

2 SubmittersRCV000331762 RCV000386233 RCV003556313

NM_005529.7(HSPG2):c.958+14G>A

SNV
Germline

Chr1:21887406

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA673644

rs_200930800

3 SubmittersRCV000322882 RCV000372886 RCV002059444

NM_005529.7(HSPG2):c.878G>A (p.Arg293His)

SNV
Germline

Chr1:21887500

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA673672

rs_139873789

6 SubmittersRCV000348836 RCV000394379 RCV002520447 RCV005016692 RCV000711946 RCV000765081

NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr)

SNV
Germline

Chr1:21884657

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
not specified
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA673395

rs_142071466

6 SubmittersRCV000887329 RCV000383784 RCV000591375 RCV000347946

NM_005529.7(HSPG2):c.1508-9G>A

SNV
Germline

Chr1:21884683

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA673406

rs_538216424

2 SubmittersRCV000284500 RCV000339579 RCV001439947

NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro)

SNV
Germline

Chr1:21887608

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA673709

rs_149319607

7 SubmittersRCV000266127 RCV000365315 RCV001367619 RCV005008273 RCV002520448

NM_005529.7(HSPG2):c.245-11C>T

SNV
Germline

Chr1:21890705

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA673953

rs_377063208

2 SubmittersRCV000346683 RCV000397419 RCV003765726

NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)

SNV
Germline

Chr1:21859668

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA672018

rs_201491948

5 SubmittersRCV000498978 RCV004999544 RCV005398718

NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)

SNV
Germline

Chr1:21823459

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA669145

rs_148788926

6 SubmittersRCV000518544 RCV001095861 RCV001095862

NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)

SNV
Germline

Chr1:21873961

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Connective tissue disorder
HSPG2-related disorder
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA672546

rs_113652076

12 SubmittersRCV000710146 RCV001096080 RCV001096081 RCV002279305 RCV004537844 RCV005625658

NM_005529.7(HSPG2):c.732A>G (p.Thr244=)

SNV
Germline

Chr1:21887646

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
not specified
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA673720

rs_139842104

6 SubmittersRCV000595805 RCV001102198 RCV001644700 RCV001102197

NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)

SNV
Germline

Chr1:21860220

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA672092

rs_138459752

6 SubmittersRCV000594640 RCV001001901 RCV001099318 RCV001099319 RCV004530677

NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)

SNV
Germline

Chr1:21823474

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Condition: not provided
Schwartz-Jampel syndrome
Connective tissue disorder
Inborn genetic diseases
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA669150

rs_145687082

10 SubmittersRCV001095866 RCV000711913 RCV001095865 RCV002279380 RCV002532468 RCV004543354

NM_005529.7(HSPG2):c.11208-7G>A

SNV
Germline

Chr1:21831803

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA521587734

rs_1336552092

3 SubmittersRCV000593717 RCV001261555 RCV001824152

NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)

SNV
Germline

Chr1:21844210

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified

Criteria Provided
Conflicting Classifications

CA670741

rs_199942544

5 SubmittersRCV000711945 RCV001100314 RCV001100315 RCV001000671

NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)

SNV
Germline

Chr1:21828877

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA669503

rs_573932867

5 SubmittersRCV000731706 RCV001101519 RCV001101520 RCV002485898

NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=)

SNV
Germline

Chr1:21831004

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA669698

rs_367617288

3 SubmittersRCV000954837 RCV001101625 RCV001101626

NM_005529.7(HSPG2):c.7956G>A (p.Val2652=)

SNV
Germline

Chr1:21847758

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA670990

rs_145265774

3 SubmittersRCV000954064 RCV001096986 RCV001096987

NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)

SNV
Germline

Chr1:21823404

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA669132

rs_62642502

5 SubmittersRCV000973271 RCV001101309 RCV001101310 RCV004535973

NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)

SNV
Germline

Chr1:21824136

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA669251

rs_537908254

6 SubmittersRCV000970693 RCV001101420 RCV001101421 RCV002548349

NM_005529.7(HSPG2):c.9327C>T (p.His3109=)

SNV
Germline

Chr1:21841540

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA670489

rs_61743674

5 SubmittersRCV000961262 RCV001102113 RCV001102114

NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)

SNV
Germline

Chr1:21838950

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA670252

rs_570850437

3 SubmittersRCV000895771 RCV003338846

NM_005529.7(HSPG2):c.8805C>T (p.His2935=)

SNV
Germline

Chr1:21842875

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA670646

rs_201338722

2 SubmittersRCV000909550 RCV001096795 RCV001096796

NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile)

SNV
Germline

Chr1:21880550

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA673219

rs_147810145

3 SubmittersRCV000907173 RCV001096497 RCV001098246 RCV005392534

NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=)

SNV
Germline

Chr1:21842099

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA670552

rs_749580877

2 SubmittersRCV000913902 RCV001096710 RCV001096709

NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile)

SNV
Germline

Chr1:21848774

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA671115

rs_372633230

2 SubmittersRCV000925730 RCV001100537 RCV001100538

NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=)

SNV
Germline

Chr1:21851585

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA671308

rs_764531754

3 SubmittersRCV000911428 RCV001100925 RCV001100926

NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=)

SNV
Germline

Chr1:21862107

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA672173

rs_773098995

2 SubmittersRCV000921121 RCV001095867 RCV001095868

NM_005529.7(HSPG2):c.2367G>A (p.Gly789=)

SNV
Germline

Chr1:21879098

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA673090

rs_151039517

3 SubmittersRCV000923358 RCV001096394 RCV001096395

NM_005529.7(HSPG2):c.1494C>T (p.Leu498=)

SNV
Germline

Chr1:21884780

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA673447

rs_187648591

3 SubmittersRCV000937329 RCV001096600 RCV001096599

NM_005529.7(HSPG2):c.8616+9G>C

SNV
Germline

Chr1:21844139

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA670722

rs_189754659

3 SubmittersRCV000927988 RCV001098544 RCV001098545

NM_005529.7(HSPG2):c.9890-4T>G

SNV
Germline

Chr1:21839089

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA19103424

rs_770388964

2 SubmittersRCV000975364 RCV001100014 RCV001100015

NM_005529.7(HSPG2):c.8316+1G>A

SNV
Germline

Chr1:21846447

Pathogenic/Likely pathogenic

Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA19112924

rs_927473035

2 SubmittersRCV000984521 RCV001379900

NM_005529.7(HSPG2):c.1654+5G>A

SNV
Unknown

Chr1:21884523

Likely pathogenic

Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA915941169

rs_1572356343

1 SubmittersRCV000986276

NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=)

SNV
Germline

Chr1:21833362

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Conflicting Classifications

CA669952

rs_147966644

3 SubmittersRCV000993937 RCV001096295 RCV001096296

NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln)

SNV
Germline

Chr1:21876591

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA672883

rs_369313904

3 SubmittersRCV001044890 RCV002505578 RCV004986756

NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)

SNV
Germline

Chr1:21828408

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669476

rs_146179360

4 SubmittersRCV001099538 RCV001099539 RCV001545775

NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His)

SNV
Germline

Chr1:21828851

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA669498

rs_376190109

3 SubmittersRCV001099541 RCV001099540 RCV001873488 RCV002556016

NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)

SNV
Germline

Chr1:21828962

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA669518

rs_143015575

5 SubmittersRCV001811656 RCV001101524 RCV001101523 RCV004734014

NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=)

SNV
Germline

Chr1:21830051

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669663

rs_145093233

2 SubmittersRCV001097839 RCV001097838 RCV005056883

NM_005529.7(HSPG2):c.11187G>A (p.Val3729=)

SNV
Germline

Chr1:21832515

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669893

rs_2229487

2 SubmittersRCV001099734 RCV001099735 RCV001873489

NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)

SNV
Germline

Chr1:21834790

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA670074

rs_145048530

5 SubmittersRCV001323075 RCV001101806 RCV001101807 RCV002554980

NM_005529.7(HSPG2):c.9594G>A (p.Val3198=)

SNV
Germline

Chr1:21839937

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA416547197

rs_1460932486

2 SubmittersRCV001098332 RCV001098333 RCV001484023

NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=)

SNV
Germline

Chr1:21842261

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA670586

rs_202067055

3 SubmittersRCV001098441 RCV001098442 RCV003727849 RCV004545057

NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=)

SNV
Germline

Chr1:21842267

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670588

rs_763389929

2 SubmittersRCV001098443 RCV001098444 RCV002554925

NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=)

SNV
Germline

Chr1:21842833

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670641

rs_371076634

2 SubmittersRCV001096794 RCV001096793 RCV001449286

NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)

SNV
Germline

Chr1:21847354

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670902

rs_201508804

3 SubmittersRCV001100423 RCV001100424 RCV002069688

NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=)

SNV
Germline

Chr1:21847367

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670910

rs_140067347

3 SubmittersRCV001100428 RCV001100427 RCV001856365

NM_005529.7(HSPG2):c.7954G>A (p.Val2652Met)

SNV
Germline

Chr1:21847760

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670991

rs_190732238

2 SubmittersRCV001096988 RCV001096989 RCV002069635

NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)

SNV
Germline

Chr1:21853018

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder

Criteria Provided
Conflicting Classifications

CA671524

rs_752099132

3 SubmittersRCV001101017 RCV001101018 RCV002554971 RCV004536152

NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=)

SNV
Germline

Chr1:21853042

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA671533

rs_369970075

4 SubmittersRCV001097288 RCV001097289 RCV002069641 RCV004998646

NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=)

SNV
Germline

Chr1:21864918

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672234

rs_142288625

3 SubmittersRCV001099432 RCV001099431 RCV002554939

NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser)

SNV
Germline

Chr1:21872272

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA672362

rs_778185997

3 SubmittersRCV001099544 RCV001099545 RCV002069671 RCV004998648

NM_005529.7(HSPG2):c.3543C>T (p.His1181=)

SNV
Germline

Chr1:21874519

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672608

rs_375029322

3 SubmittersRCV001101629 RCV001101630 RCV002069702

NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=)

SNV
Germline

Chr1:21874948

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672680

rs_765575912

2 SubmittersRCV001101631 RCV001101632 RCV002556044

NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser)

SNV
Germline

Chr1:21875892

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672756

rs_544172715

2 SubmittersRCV001099738 RCV001099739 RCV002069679

NM_005529.7(HSPG2):c.12745-9C>T

SNV
Germline

Chr1:21824385

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA521900767

rs_1459647807

2 SubmittersRCV001095960 RCV001095961 RCV003769041

NM_005529.7(HSPG2):c.11671+11C>T

SNV
Germline

Chr1:21830971

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA669689

rs_368204073

3 SubmittersRCV001099644 RCV001099643 RCV002067756

NM_005529.7(HSPG2):c.9890-7C>A

SNV
Germline

Chr1:21839092

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA670281

rs_377609659

2 SubmittersRCV001101999 RCV001101998 RCV001856391

NM_005529.7(HSPG2):c.5701+9G>A

SNV
Germline

Chr1:21855778

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA671825

rs_549778143

2 SubmittersRCV001099211 RCV001099212 RCV002069667

NM_005529.7(HSPG2):c.5701+8C>T

SNV
Germline

Chr1:21855779

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA671827

rs_370899852

3 SubmittersRCV001101213 RCV001101212 RCV002069696 RCV004689990

NM_005529.7(HSPG2):c.4740+14G>A

SNV
Germline

Chr1:21864086

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA672188

rs_370407461

2 SubmittersRCV001095869 RCV001095870 RCV002069617

NM_005529.7(HSPG2):c.4396-12C>A

SNV
Germline

Chr1:21865085

Conflicting classifications of pathogenicity

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome

Criteria Provided
Conflicting Classifications

CA672280

rs_747704697

2 SubmittersRCV001095966 RCV002069618 RCV001095967

NM_005529.7(HSPG2):c.1508-15C>T

SNV
Germline

Chr1:21884689

Conflicting classifications of pathogenicity

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA673409

rs_750306743

2 SubmittersRCV001096597 RCV001096598 RCV005056881

NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)

SNV
Germline

Chr1:21885405

Likely pathogenic

Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA338967676

rs_543805444

1 SubmittersRCV001248829

NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)

SNV
Germline

Chr1:21839005

Likely pathogenic

Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA338912092

rs_1294413650

4 SubmittersRCV001261556 RCV001597262 RCV001824170 RCV003989665

NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)

SNV
Unknown

Chr1:21839017

Likely pathogenic

Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA338912144

rs_2098038156

1 SubmittersRCV001331411

NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=)

SNV
Germline

Chr1:21830012

Conflicting classifications of pathogenicity

Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA669649

rs_144447618

2 SubmittersRCV001359291 RCV002504588

NM_005529.7(HSPG2):c.4955+3A>T

SNV
Unknown

Chr1:21861754

Likely pathogenic

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA672110

rs_769130391

1 SubmittersRCV001726530

NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)

SNV
Germline

Chr1:21830033

Likely pathogenic

Schwartz-Jampel syndrome

Criteria Provided
Single Submitter

CA338902832

rs_1215934207

1 SubmittersRCV001420359

NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln)

SNV
Germline

Chr1:21859586

Conflicting classifications of pathogenicity

Condition: not provided
Schwartz-Jampel syndrome type 1

Criteria Provided
Conflicting Classifications

CA671993

rs_2229483

2 SubmittersRCV001982495 RCV003444067

NM_005529.7(HSPG2):c.4955+1G>C

SNV
Germline

Chr1:21861756

Likely pathogenic

Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

CA338949438

rs_139944523

1 SubmittersRCV002238697

NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)

SNV
Germline

Chr1:21857383

Likely pathogenic

Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

CA338943512

rs_1239294172

1 SubmittersRCV003234962

NM_005529.7(HSPG2):c.12900-2A>G

SNV
Germline

Chr1:21823721

Likely pathogenic

Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

CA669217

rs_111306515

1 SubmittersRCV003388347

NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)

SNV
Germline

Chr1:21887263

Likely pathogenic

Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

CA338968677

rs_2550800597

1 SubmittersRCV003444078

NM_005529.7(HSPG2):c.3994C>T (p.Gln1332Ter)

SNV
Germline

Chr1:21872655

Pathogenic

Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788595

NM_005529.7(HSPG2):c.8025+1G>A

SNV
Germline

Chr1:21847688

Likely pathogenic

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004796936

NM_005529.7(HSPG2):c.6288+1G>A

SNV
Germline

Chr1:21854610

Likely pathogenic

Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005410204