Total 158 pathogenic variants reported for Schwartz-Jampel syndrome 
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
 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
 rs_1572220282

1 SubmittersRCV001800295
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) SNV
Germline		 Chr1:21880484 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Condition: not provided
Connective tissue disorder
not specified
Schwartz-Jampel syndrome		 Criteria Provided
Conflicting Classifications
 CA201276 rs_143669458

10 SubmittersRCV000352369RCV000757384RCV002277349RCV000175061RCV000388323
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
Lethal Kniest-like syndrome
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA245018 rs_142433309

11 SubmittersRCV000178005RCV000191093RCV000991336RCV001099320RCV004537456
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 SubmittersRCV000179196RCV000259625RCV000370645
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) SNV
Germline		 Chr1:21831302 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA247892 rs_111866498

8 SubmittersRCV000180423RCV000325486RCV000270486RCV001289451RCV002277431
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) SNV
Germline		 Chr1:21824146 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA248339 rs_141280063

7 SubmittersRCV000711912RCV001101422RCV001101423RCV004998388RCV004539697
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) SNV
Germline		 Chr1:21865798 Conflicting classifications of pathogenicity Childhood-onset schizophrenia
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome		 Criteria Provided
Conflicting Classifications
 CA210461 rs_745452577

2 SubmittersRCV000202344RCV000284010RCV000336696
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 SubmittersRCV000191094RCV000883656RCV001098138RCV002277446RCV004998401
NM_005529.7(HSPG2):c.7006+1G>A SNV
Germline		 Chr1:21851790 Pathogenic/Likely pathogenic Condition: not provided
Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588283 rs_778653296

3 SubmittersRCV000254867RCV002487170
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 SubmittersRCV000318036RCV001101810RCV001101811
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

6 SubmittersRCV000277852RCV000297842RCV000370440RCV004535318
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
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA671844 rs_140954748

9 SubmittersRCV000278295RCV000376732RCV000372843RCV000725443RCV000765077RCV004535319
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
Inborn genetic diseases
HSPG2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA670729 rs_139838884

8 SubmittersRCV000296341RCV000352198RCV000401011RCV004021165RCV004535332RCV004999219
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
Inborn genetic diseases
HSPG2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA671046 rs_147286334

6 SubmittersRCV000280103RCV000332928RCV000372364RCV004021166RCV004535333RCV004999220
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) SNV
Germline		 Chr1:21852969 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
Inborn genetic diseases
HSPG2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA671511 rs_143109401

8 SubmittersRCV000259556RCV000354393RCV000387513RCV002518950RCV004535334RCV004999221
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) SNV
Germline		 Chr1:21864868 Conflicting classifications of pathogenicity not specified
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Connective tissue disorder
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA672218 rs_142736845

9 SubmittersRCV000320580RCV000726026RCV000765078RCV001097664RCV001097665RCV002278305RCV004535386
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) SNV
Germline		 Chr1:21851618 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA671317 rs_139001173

7 SubmittersRCV000308338RCV000362986RCV000367179RCV000895489RCV002278308
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 SubmittersRCV000260219RCV000320024RCV000726246RCV004999241
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 SubmittersRCV000369617RCV000726320RCV001096488RCV001096489RCV002522005
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) SNV
Germline		 Chr1:21850422 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA671265 rs_146309392

10 SubmittersRCV000285449RCV000340372RCV000711940RCV000765076RCV004999245
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 SubmittersRCV000280928RCV000349972RCV000408330
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=) SNV
Germline		 Chr1:21836885 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA670181 rs_762130127

2 SubmittersRCV000346554RCV000398416RCV001466975
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) SNV
Germline		 Chr1:21839967 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided
Inborn genetic diseases
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA670399 rs_149644947

10 SubmittersRCV000274765RCV000367014RCV000414737RCV001348418RCV002522108RCV004543166
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) SNV
Germline		 Chr1:21842781 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
Inborn genetic diseases
See cases		 Criteria Provided
Conflicting Classifications
 CA670628 rs_143274889

8 SubmittersRCV000265382RCV000322836RCV000731075RCV002520431RCV002252089
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) SNV
Germline		 Chr1:21823347 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
Condition: not provided
Inborn genetic diseases
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA669117 rs_116316900

6 SubmittersRCV000299146RCV000407722RCV001000608RCV002059437RCV004021422RCV004543163
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) SNV
Germline		 Chr1:21851597 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA671312 rs_150126997

3 SubmittersRCV000272425RCV000366911RCV001001911RCV002059441
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=) SNV
Germline		 Chr1:21851831 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA671364 rs_565594406

2 SubmittersRCV000319693RCV000374302RCV004725151
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 SubmittersRCV000295623RCV000389838RCV000517794RCV001812780
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) SNV
Germline		 Chr1:21829000 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA669529 rs_146167897

6 SubmittersRCV000286587RCV000380314RCV000711906
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
Connective tissue disorder
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA669606 rs_116630187

10 SubmittersRCV000287593RCV000347270RCV000757386RCV000999873RCV002278344RCV004537645
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 SubmittersRCV000293318RCV000399868RCV003765720
NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=) SNV
Germline		 Chr1:21852776 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA671465 rs_756830539

2 SubmittersRCV000302943RCV000357776RCV003765721
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 SubmittersRCV000285675RCV000340600RCV000591049RCV001642909
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 SubmittersRCV000316234RCV000375479RCV002520424
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) SNV
Germline		 Chr1:21855385 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA671745 rs_147669915

3 SubmittersRCV000284652RCV000379311RCV000913179RCV004537650
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=) SNV
Germline		 Chr1:21861825 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA672131 rs_745452531

2 SubmittersRCV000275777RCV000333233RCV003765723
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 SubmittersRCV000276512RCV000326903RCV003765725
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) SNV
Germline		 Chr1:21880115 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA673113 rs_149094407

6 SubmittersRCV000267821RCV000357849RCV000516428RCV002520442RCV004999266
NM_005529.7(HSPG2):c.10355+13G>A SNV
Germline		 Chr1:21836789 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA670164 rs_749712460

2 SubmittersRCV000321357RCV000380661RCV002059438
NM_005529.7(HSPG2):c.959-7C>T SNV
Germline		 Chr1:21887341 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA673628 rs_529027225

2 SubmittersRCV000286657RCV000376456RCV000922869
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 SubmittersRCV000267507RCV000322617RCV000757387
NM_005529.7(HSPG2):c.64-12G>A SNV
Germline		 Chr1:21896322 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10609191 rs_777907037

2 SubmittersRCV000305912RCV000397409RCV003765727
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 SubmittersRCV000312342RCV000400939RCV002059440
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) SNV
Germline		 Chr1:21857157 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA671927 rs_140134749

4 SubmittersRCV000310456RCV000395823RCV000516229
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) SNV
Germline		 Chr1:21865732 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA672326 rs_768475262

2 SubmittersRCV000323829RCV000376156RCV000916164
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 SubmittersRCV000271724RCV000310401RCV002520421
NM_005529.7(HSPG2):c.13004-5G>A SNV
Germline		 Chr1:21823493 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Connective tissue disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA669155 rs_376645617

7 SubmittersRCV000270641RCV000362875RCV000900687RCV002278339RCV002520422
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) SNV
Germline		 Chr1:21824335 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA669290 rs_141936971

5 SubmittersRCV000307964RCV000369633RCV000711911RCV002278341
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) SNV
Germline		 Chr1:21831085 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA669716 rs_200221194

5 SubmittersRCV000306105RCV000360892RCV000942417RCV004543164
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 SubmittersRCV000266097RCV000356102RCV001171755
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
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA669942 rs_149159881

10 SubmittersRCV000269036RCV000363706RCV000507550RCV000765074RCV000948533RCV004537646
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 SubmittersRCV000303142RCV000399869RCV001302602RCV004021423
NM_005529.7(HSPG2):c.9710-10G>A SNV
Germline		 Chr1:21839560 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA670352 rs_369434104

3 SubmittersRCV000271215RCV000309903RCV000899897
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 SubmittersRCV000298518RCV000355753RCV000992149
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile) SNV
Germline		 Chr1:21834781 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA670068 rs_372760688

2 SubmittersRCV000306473RCV000347343RCV002520425
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) SNV
Germline		 Chr1:21836877 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA670179 rs_142939330

8 SubmittersRCV000291620RCV000381320RCV000974827RCV001283519RCV004543165
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 SubmittersRCV000344964RCV000383153RCV002059439
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 SubmittersRCV000272785RCV000365500RCV002520432
NM_005529.7(HSPG2):c.7294+9C>A SNV
Germline		 Chr1:21850354 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10609991 rs_886046031

2 SubmittersRCV000325341RCV000380021RCV003105858
NM_005529.7(HSPG2):c.8026-10G>A SNV
Germline		 Chr1:21847502 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA670951 rs_377601366

2 SubmittersRCV000330729RCV000369019RCV000972574
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) SNV
Germline		 Chr1:21864193 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
not specified
Condition: not provided
Connective tissue disorder
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA672197 rs_148362276

5 SubmittersRCV000283546RCV000395502RCV000517868RCV000918538RCV002278372RCV004543167
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 SubmittersRCV000313928RCV000390150RCV000912426RCV004999261
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) SNV
Germline		 Chr1:21864980 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
HSPG2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA672259 rs_138460117

6 SubmittersRCV000331857RCV000365542RCV000907630RCV004537651RCV004999262
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) SNV
Germline		 Chr1:21864981 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA672260 rs_372318754

6 SubmittersRCV000273324RCV000325999RCV000518694RCV000880307RCV002278373
NM_005529.7(HSPG2):c.6660G>C (p.Val2220=) SNV
Germline		 Chr1:21852764 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA671462 rs_368431013

2 SubmittersRCV000360993RCV000389945RCV002522112
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) SNV
Germline		 Chr1:21872704 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA672416 rs_72866991

7 SubmittersRCV000309327RCV000400505RCV000595217RCV000964103RCV002278374
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) SNV
Germline		 Chr1:21854286 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA671591 rs_146462440

4 SubmittersRCV000290427RCV000384775RCV000938965RCV004999259
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) SNV
Germline		 Chr1:21857382 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided
Connective tissue disorder
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA671964 rs_139794766

7 SubmittersRCV000304366RCV000361371RCV000517424RCV000658125RCV002278371RCV004734951
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) SNV
Germline		 Chr1:21859902 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA672055 rs_370558075

3 SubmittersRCV000303262RCV000399765RCV000597364
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=) SNV
Germline		 Chr1:21865804 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA672339 rs_369731617

2 SubmittersRCV000278237RCV000394542RCV003765724
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 SubmittersRCV000263055RCV000374241RCV000894526
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) SNV
Germline		 Chr1:21874492 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10610030 rs_886046036

2 SubmittersRCV000306404RCV000344965RCV000885735
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 SubmittersRCV000289752RCV000381805RCV002059443
NM_005529.7(HSPG2):c.2685+6C>T SNV
Germline		 Chr1:21878180 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA672917 rs_189296705

3 SubmittersRCV000334601RCV000394399RCV000918648RCV004999265
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) SNV
Germline		 Chr1:21874471 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA672597 rs_544392697

2 SubmittersRCV000346027RCV000395984RCV000915462
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=) SNV
Germline		 Chr1:21878482 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10610060 rs_886046042

2 SubmittersRCV000306302RCV000365720RCV002520441
NM_005529.7(HSPG2):c.3183+10A>T SNV
Germline		 Chr1:21875853 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA672750 rs_368807853

3 SubmittersRCV000342289RCV000395214RCV001433238RCV004999264
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 SubmittersRCV000331762RCV000386233RCV003556313
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 SubmittersRCV000322882RCV000372886RCV002059444
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) SNV
Germline		 Chr1:21887500 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA673672 rs_139873789

6 SubmittersRCV000348836RCV000394379RCV000711946RCV000765081RCV002520447
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) SNV
Germline		 Chr1:21884657 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA673395 rs_142071466

5 SubmittersRCV000347946RCV000383784RCV000591375RCV000887329
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 SubmittersRCV000284500RCV000339579RCV001439947
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA673709 rs_149319607

5 SubmittersRCV000266127RCV000365315RCV001367619RCV002520448
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 SubmittersRCV000346683RCV000397419RCV003765726
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 SubmittersRCV000518544RCV001095861RCV001095862
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) SNV
Germline		 Chr1:21873961 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Connective tissue disorder
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA672546 rs_113652076

11 SubmittersRCV000710146RCV001096081RCV001096080RCV002279305RCV004537844
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) SNV
Germline		 Chr1:21887646 Conflicting classifications of pathogenicity Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA673720 rs_139842104

6 SubmittersRCV000595805RCV001102198RCV001102197RCV001644700
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 SubmittersRCV000594640RCV001001901RCV001099318RCV001099319RCV004530677
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) SNV
Germline		 Chr1:21823474 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Connective tissue disorder
Inborn genetic diseases
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA669150 rs_145687082

10 SubmittersRCV000711913RCV001095866RCV001095865RCV002279380RCV002532468RCV004543354
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 SubmittersRCV000593717RCV001261555RCV001824152
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) SNV
Germline		 Chr1:21844210 Conflicting classifications of pathogenicity Condition: not provided
not specified
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome		 Criteria Provided
Conflicting Classifications
 rs_199942544

5 SubmittersRCV000711945RCV001000671RCV001100314RCV001100315
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) SNV
Germline		 Chr1:21828877 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1
Schwartz-Jampel syndrome		 Criteria Provided
Conflicting Classifications
 rs_573932867

5 SubmittersRCV001101520RCV000731706RCV002485898RCV001101519
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
 rs_367617288

3 SubmittersRCV000954837RCV001101625RCV001101626
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=) SNV
Germline		 Chr1:21847758 Conflicting classifications of pathogenicity Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome		 Criteria Provided
Conflicting Classifications
 rs_145265774

3 SubmittersRCV000954064RCV001096987RCV001096986
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
 rs_62642502

5 SubmittersRCV000973271RCV001101309RCV001101310RCV004535973
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) SNV
Germline		 Chr1:21824136 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_537908254

6 SubmittersRCV000970693RCV001101421RCV001101420RCV002548349
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) SNV
Germline		 Chr1:21841540 Conflicting classifications of pathogenicity Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome		 Criteria Provided
Conflicting Classifications
 rs_61743674

5 SubmittersRCV000961262RCV001102114RCV001102113
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
 rs_570850437

3 SubmittersRCV000895771RCV003338846
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
 rs_201338722

2 SubmittersRCV000909550RCV001096795RCV001096796
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) SNV
Germline		 Chr1:21880550 Conflicting classifications of pathogenicity Condition: not provided
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome		 Criteria Provided
Conflicting Classifications
 rs_147810145

2 SubmittersRCV000907173RCV001098246RCV001096497
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
 rs_749580877

2 SubmittersRCV000913902RCV001096710RCV001096709
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile) SNV
Germline		 Chr1:21848774 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome		 Criteria Provided
Conflicting Classifications
 rs_372633230

2 SubmittersRCV000925730RCV001100538RCV001100537
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
 rs_764531754

3 SubmittersRCV000911428RCV001100925RCV001100926
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
 rs_773098995

2 SubmittersRCV000921121RCV001095867RCV001095868
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
 rs_151039517

3 SubmittersRCV000923358RCV001096394RCV001096395
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
 rs_187648591

3 SubmittersRCV000937329RCV001096600RCV001096599
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
 rs_189754659

3 SubmittersRCV000927988RCV001098544RCV001098545
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
 rs_770388964

2 SubmittersRCV000975364RCV001100014RCV001100015
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
 rs_927473035

2 SubmittersRCV000984521RCV001379900
NM_005529.7(HSPG2):c.1654+5G>A SNV
Unknown		 Chr1:21884523 Likely pathogenic Schwartz-Jampel syndrome Criteria Provided
Single Submitter
 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
 rs_147966644

3 SubmittersRCV000993937RCV001096295RCV001096296
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) SNV
Germline		 Chr1:21876591 Conflicting classifications of pathogenicity Condition: not provided
Lethal Kniest-like syndrome
Schwartz-Jampel syndrome type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_369313904

3 SubmittersRCV001044890RCV002505578RCV004986756
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
 rs_146179360

4 SubmittersRCV001099538RCV001099539RCV001545775
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
 rs_376190109

3 SubmittersRCV001099541RCV001099540RCV001873488RCV002556016
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) SNV
Germline		 Chr1:21828962 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
HSPG2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_143015575

5 SubmittersRCV001101524RCV001101523RCV001811656RCV004734014
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=) SNV
Germline		 Chr1:21832515 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2229487

2 SubmittersRCV001099735RCV001099734RCV001873489
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) SNV
Germline		 Chr1:21834790 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_145048530

5 SubmittersRCV001101806RCV001101807RCV001323075RCV002554980
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
 rs_1460932486

2 SubmittersRCV001098332RCV001098333RCV001484023
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
 rs_202067055

3 SubmittersRCV001098441RCV001098442RCV003727849RCV004545057
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
 rs_763389929

2 SubmittersRCV001098443RCV001098444RCV002554925
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
 rs_371076634

2 SubmittersRCV001096794RCV001096793RCV001449286
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
 rs_201508804

3 SubmittersRCV001100423RCV001100424RCV002069688
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) SNV
Germline		 Chr1:21847367 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_140067347

3 SubmittersRCV001100427RCV001100428RCV001856365
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
 rs_190732238

2 SubmittersRCV001096988RCV001096989RCV002069635
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
 rs_752099132

3 SubmittersRCV001101017RCV001101018RCV002554971RCV004536152
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
 rs_369970075

4 SubmittersRCV001097288RCV001097289RCV002069641RCV004998646
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
 rs_142288625

3 SubmittersRCV001099432RCV001099431RCV002554939
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
 rs_778185997

3 SubmittersRCV001099544RCV001099545RCV002069671RCV004998648
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
 rs_375029322

2 SubmittersRCV001101629RCV001101630RCV002069702
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=) SNV
Germline		 Chr1:21874948 Conflicting classifications of pathogenicity Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_765575912

2 SubmittersRCV001101632RCV001101631RCV002556044
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
 rs_544172715

2 SubmittersRCV001099738RCV001099739RCV002069679
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
 rs_1459647807

2 SubmittersRCV001095960RCV001095961RCV003769041
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
 rs_368204073

3 SubmittersRCV001099644RCV001099643RCV002067756
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
 rs_549778143

2 SubmittersRCV001099211RCV001099212RCV002069667
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
 rs_370899852

3 SubmittersRCV001101213RCV001101212RCV002069696RCV004689990
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
 rs_370407461

2 SubmittersRCV001095869RCV001095870RCV002069617
NM_005529.7(HSPG2):c.4396-12C>A SNV
Germline		 Chr1:21865085 Conflicting classifications of pathogenicity Lethal Kniest-like syndrome
Schwartz-Jampel syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_747704697

2 SubmittersRCV001095967RCV001095966RCV002069618
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp) SNV
Germline		 Chr1:21885405 Likely pathogenic Schwartz-Jampel syndrome Criteria Provided
Single Submitter
 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
 rs_1294413650

4 SubmittersRCV001261556RCV001597262RCV001824170RCV003989665
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg) SNV
Unknown		 Chr1:21839017 Likely pathogenic Schwartz-Jampel syndrome Criteria Provided
Single Submitter
 rs_2098038156

1 SubmittersRCV001331411
NM_005529.7(HSPG2):c.4955+3A>T SNV
Unknown		 Chr1:21861754 Likely pathogenic Schwartz-Jampel syndrome
Lethal Kniest-like syndrome		 Criteria Provided
Single Submitter
 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
 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
 rs_2229483

2 SubmittersRCV001982495RCV003444067
NM_005529.7(HSPG2):c.4955+1G>C SNV
Germline		 Chr1:21861756 Likely pathogenic Schwartz-Jampel syndrome type 1 Criteria Provided
Single Submitter
 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

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

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

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 Schwartz-Jampel syndrome type 1
Lethal Kniest-like syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV004796936