Total 74 pathogenic variants reported for Autosomal recessive multiple pterygium syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) SNV
Germline		 Chr2:232539760 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Scoliosis
Ankle flexion contracture
Arthrogryposis-like hand anomaly		 Criteria Provided
Single Submitter
 CA128047 rs_267606725

3 SubmittersRCV000020002RCV001257365
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) SNV
Germline		 Chr2:232542992 Pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128049 rs_121912670

6 SubmittersRCV000020003RCV000020004RCV003556054
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) SNV
Germline		 Chr2:232545570 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Single Submitter
 CA128050 rs_121912671

2 SubmittersRCV000020006RCV005025075
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) SNV
Germline		 Chr2:232540681 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter
 CA128052 rs_267606726

2 SubmittersRCV000020007RCV000020008
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) SNV
Germline		 Chr2:232540072 Pathogenic Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128053 rs_121912672

7 SubmittersRCV000020009RCV001781290RCV001822997RCV005406756
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) SNV
Germline		 Chr2:232543052 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA247217 rs_138125827

3 SubmittersRCV000179901RCV000309135RCV001094614
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) SNV
Germline		 Chr2:232541451 Pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210351 rs_765746795

4 SubmittersRCV000201797RCV001775100RCV003556250
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) SNV
Germline		 Chr2:232544446 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
CHRNG-related disorder		 Criteria Provided
Conflicting Classifications
 CA2168943 rs_145433186

9 SubmittersRCV000224861RCV000509333RCV001141632RCV001141631RCV004541362
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) SNV
Germline		 Chr2:232542940 Conflicting classifications of pathogenicity Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168765 rs_150556220

4 SubmittersRCV000297688RCV001143346RCV001143347
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) SNV
Germline		 Chr2:232545543 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
not specified
Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset		 Criteria Provided
Conflicting Classifications
 CA2169054 rs_143800157

5 SubmittersRCV000301272RCV000382886RCV001094623RCV001689958RCV005355615
NM_005199.5(CHRNG):c.196-9C>T SNV
Germline		 Chr2:232540372 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168549 rs_182635953

2 SubmittersRCV000305721RCV001094747RCV003765948
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) SNV
Germline		 Chr2:232543592 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Inborn genetic diseases
Condition: not provided
CHRNG-related disorder		 Criteria Provided
Conflicting Classifications
 CA2168866 rs_145830034

5 SubmittersRCV000275111RCV001094663RCV002523122RCV003327396RCV004530364
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) SNV
Germline		 Chr2:232541380 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168642 rs_749995118

2 SubmittersRCV000265832RCV001094610RCV003765949
NM_005199.5(CHRNG):c.1074C>T (p.His358=) SNV
Germline		 Chr2:232544405 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168928 rs_761581720

2 SubmittersRCV000284054RCV000922574RCV001094666
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) SNV
Germline		 Chr2:232540065 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168510 rs_151276788

2 SubmittersRCV000300315RCV000876796RCV001094656
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) SNV
Germline		 Chr2:232540061 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive multiple pterygium syndrome
not specified
Lethal multiple pterygium syndrome
CHRNG-related disorder		 Criteria Provided
Conflicting Classifications
 CA2168508 rs_148468628

10 SubmittersRCV000420882RCV001138818RCV001354901RCV001138817RCV004544730
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) SNV
Germline		 Chr2:232540617 Pathogenic/Likely pathogenic Peripheral neuropathy
Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2168586 rs_777219451

11 SubmittersRCV000449634RCV000762330RCV001007785RCV003479120RCV005027495
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) SNV
Germline		 Chr2:232540066 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168512 rs_186589083

3 SubmittersRCV000481365RCV001141397RCV001141396
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) SNV
Germline		 Chr2:232540691 Conflicting classifications of pathogenicity Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168609 rs_149931943

3 SubmittersRCV000596166RCV001136678RCV001136677
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) SNV
Germline		 Chr2:232540387 Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Arthrogryposis-like hand anomaly
Ankle flexion contracture
Scoliosis
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2168554 rs_764266722

7 SubmittersRCV000660641RCV001381627RCV001257366RCV004596320RCV003992363
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) SNV
Germline		 Chr2:232540635 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351007525 rs_1559302834

3 SubmittersRCV000757091RCV002493380
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) SNV
Germline		 Chr2:232540602 Pathogenic Autosomal recessive multiple pterygium syndrome Criteria Provided
Single Submitter
 CA351007367 rs_1574643342

2 SubmittersRCV001007829
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys) SNV
Germline		 Chr2:232540018 Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset		 Criteria Provided
Conflicting Classifications
 CA2168497 rs_140623763

3 SubmittersRCV001138815RCV001138816RCV002070634RCV005367729
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) SNV
Germline		 Chr2:232540068 Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168514 rs_141402683

2 SubmittersRCV001141398RCV001141399RCV002557005
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) SNV
Germline		 Chr2:232541449 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168662 rs_375894671

2 SubmittersRCV001138914RCV001138913RCV003769660
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) SNV
Germline		 Chr2:232542489 Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168720 rs_771417982

2 SubmittersRCV001143344RCV001143345RCV003574844
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) SNV
Germline		 Chr2:232542985 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA431810948 rs_1308873617

2 SubmittersRCV001143348RCV001143349RCV003769685
NM_005199.5(CHRNG):c.195+14C>T SNV
Germline		 Chr2:232540145 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2168527 rs_200640510

2 SubmittersRCV001143244RCV001141402RCV003769675
NM_005199.5(CHRNG):c.507-12G>A SNV
Germline		 Chr2:232542411 Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Cholangiocarcinoma		 Criteria Provided
Conflicting Classifications
 CA2168709 rs_184423691

5 SubmittersRCV001141514RCV001143343RCV001354957RCV005913857
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) SNV
Germline		 Chr2:232544474 Pathogenic Autosomal recessive multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351015744 rs_1055176338

2 SubmittersRCV001196621RCV003679046
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys) SNV
Germline		 Chr2:232541462 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168665 rs_754928609

3 SubmittersRCV002537657RCV003688929RCV004799544
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) SNV
Germline		 Chr2:232543658 Conflicting classifications of pathogenicity Rheumatoid arthritis
not specified
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168883 rs_567899708

6 SubmittersRCV001375908RCV002298919RCV003235521RCV003660879RCV005360004
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) SNV
Unknown		 Chr2:232543364 Likely pathogenic Autosomal recessive multiple pterygium syndrome Criteria Provided
Single Submitter
 CA351013162 rs_2106221995

1 SubmittersRCV001730106
NM_005199.5(CHRNG):c.56-1G>A SNV
Germline		 Chr2:232539991 Pathogenic Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351006821 rs_1265493319

3 SubmittersRCV001780505RCV005014658
NM_005199.5(CHRNG):c.351-9T>C SNV
Germline		 Chr2:232541365 Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome
Condition: not provided
Multiple pterygium syndrome
CHRNG-related disorder		 Criteria Provided
Conflicting Classifications
 CA2168638 rs_764382582

4 SubmittersRCV001786519RCV002291766RCV004798929RCV004536313
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) SNV
Germline		 Chr2:232542890 Likely pathogenic Autosomal recessive multiple pterygium syndrome Criteria Provided
Single Submitter
 CA351011482 rs_2106221597

1 SubmittersRCV002226870
NM_005199.5(CHRNG):c.351-2A>G SNV
Germline		 Chr2:232541372 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2168639 rs_751234287

3 SubmittersRCV002468823RCV003775499RCV004782938
NM_005199.5(CHRNG):c.257G>A (p.Arg86His) SNV
Germline		 Chr2:232540618 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA2168588 rs_550521607

2 SubmittersRCV003178937RCV004557266
NM_005199.5(CHRNG):c.56-2A>G SNV
Germline		 Chr2:232539990 Pathogenic Autosomal recessive multiple pterygium syndrome Criteria Provided
Single Submitter
 CA351006819 rs_2469745410

1 SubmittersRCV003234967
NM_005199.5(CHRNG):c.55+5G>A SNV
Germline		 Chr2:232539807 Pathogenic Autosomal recessive multiple pterygium syndrome Criteria Provided
Single Submitter
 CA2580614111 rs_2469745168

1 SubmittersRCV003234968
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter) SNV
Germline		 Chr2:232541443 Pathogenic Autosomal recessive multiple pterygium syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2168658 rs_201762781

2 SubmittersRCV003237293RCV003561258
NM_005199.5(CHRNG):c.805+1G>A SNV
Germline		 Chr2:232543083 Likely pathogenic Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2168792 rs_367938116

3 SubmittersRCV003854312RCV005030327
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr) SNV
Germline		 Chr2:232539749 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020862
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter) SNV
Germline		 Chr2:232540102 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024344
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter) SNV
Germline		 Chr2:232540607 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024345
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter) SNV
Germline		 Chr2:232540610 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020864
NM_005199.5(CHRNG):c.350+2T>C SNV
Germline		 Chr2:232540713 Pathogenic/Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020865RCV005867235
NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter) SNV
Germline		 Chr2:232541505 Pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024346
NM_005199.5(CHRNG):c.1035+2C>A SNV
Germline		 Chr2:232543701 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024348
NM_005199.5(CHRNG):c.1035+2C>G SNV
Germline		 Chr2:232543701 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020868
NM_005199.5(CHRNG):c.1380+1G>A SNV
Germline		 Chr2:232544903 Likely pathogenic Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024350