Total 103 pathogenic variants reported for Pyknodysostosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000396.4(CTSK):c.990A>G (p.Ter330Trp) SNV
Germline		 Chr1:150796799 Pathogenic Pyknodysostosis No Assertion Criteria Provided
 CA119606 rs_74315301

1 SubmittersRCV000008931
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) SNV
Germline		 Chr1:150804203 Pathogenic Condition: not provided
Pyknodysostosis
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119608 rs_74315302

8 SubmittersRCV001206530RCV000008932RCV000623420
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) SNV
Germline		 Chr1:150799607 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119609 rs_74315303

11 SubmittersRCV000008933RCV001036147
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) SNV
Germline		 Chr1:150799228 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA119611 rs_74315304

4 SubmittersRCV000008934
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) SNV
Germline		 Chr1:150806109 Pathogenic Pyknodysostosis Criteria Provided
Multiple Submitters
No Conflicts
 CA119612 rs_74315305

4 SubmittersRCV000008935
NM_000396.4(CTSK):c.154A>T (p.Lys52Ter) SNV
Germline		 Chr1:150806191 Pathogenic Pyknodysostosis No Assertion Criteria Provided
 CA119613 rs_74315306

1 SubmittersRCV000008936
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) SNV
Germline		 Chr1:150796863 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119615 rs_29001685

5 SubmittersRCV000008937RCV001851751
NM_000396.4(CTSK):c.684C>T (p.Pro228=) SNV
Germline		 Chr1:150799644 Conflicting classifications of pathogenicity Pyknodysostosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1080453 rs_142097792

4 SubmittersRCV000287173RCV000596324
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) SNV
Germline		 Chr1:150806176 Conflicting classifications of pathogenicity Pyknodysostosis
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1080562 rs_201446793

5 SubmittersRCV000390371RCV000892785RCV003165783
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr1:150796855 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080391 rs_375958814

5 SubmittersRCV000410122RCV001232559
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) SNV
Germline		 Chr1:150796855 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA1080390 rs_375958814

2 SubmittersRCV000409981
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) SNV
Germline		 Chr1:150804071 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080491 rs_202040269

6 SubmittersRCV000409218RCV003558363
NM_000396.4(CTSK):c.243+1G>A SNV
Unknown		 Chr1:150806101 Likely pathogenic Pyknodysostosis No Assertion Criteria Provided
 CA16040659 rs_1057517263

1 SubmittersRCV000408975
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) SNV
Germline		 Chr1:150806132 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080555 rs_780202604

4 SubmittersRCV001861365RCV000411767
NM_000396.4(CTSK):c.121-2A>G SNV
Germline		 Chr1:150806226 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16040660 rs_1057516587

3 SubmittersRCV000410588RCV001861371
NM_000396.4(CTSK):c.120+1G>A SNV
Germline		 Chr1:150806685 Pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA16040661 rs_1057517279

2 SubmittersRCV000410647RCV003679001
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) SNV
Germline		 Chr1:150806780 Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16040663 rs_1057517252

5 SubmittersRCV000409305RCV003558364
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) SNV
Germline		 Chr1:150806803 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA16040664 rs_778368118

2 SubmittersRCV000412093
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) SNV
Germline		 Chr1:150799182 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342335720 rs_1553196900

3 SubmittersRCV000666587RCV002530691
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) SNV
Germline		 Chr1:150806209 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080568 rs_371277428

7 SubmittersRCV000669037RCV001071413
NM_000396.4(CTSK):c.400-1G>C SNV
Germline		 Chr1:150804240 Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342336807 rs_1553197262

4 SubmittersRCV000665773RCV002530666
NM_000396.4(CTSK):c.784+1G>A SNV
Germline		 Chr1:150799543 Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342335944 rs_1553196934

3 SubmittersRCV000666321RCV000797201
NM_000396.4(CTSK):c.618+1G>A SNV
Unknown		 Chr1:150804020 Likely pathogenic Pyknodysostosis No Assertion Criteria Provided
 CA342336320 rs_1553197230

1 SubmittersRCV000666473
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) SNV
Germline		 Chr1:150806803 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080602 rs_778368118

4 SubmittersRCV000666918RCV002530701
NM_000396.4(CTSK):c.891-1G>T SNV
Unknown		 Chr1:150796899 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342335688 rs_1557823855

1 SubmittersRCV000761474
NM_000396.4(CTSK):c.618+2T>G SNV
Unknown		 Chr1:150804019 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336316 rs_75481239

1 SubmittersRCV000761424
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) SNV
Germline		 Chr1:150796836 Pathogenic/Likely pathogenic Condition: not provided
Abnormality of the skeletal system
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080385 rs_762780994

11 SubmittersRCV000803909RCV001814239RCV001830739
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV
Germline		 Chr1:150796884 Pathogenic 8 conditions
15 conditions
Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342335638 rs_1571122183

3 SubmittersRCV001002750RCV001007653RCV003467528RCV002536163
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) SNV
Unknown		 Chr1:150799232 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342335834 rs_1571123333

1 SubmittersRCV000986407
NM_000396.4(CTSK):c.121-1G>A SNV
Germline		 Chr1:150806225 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080571 rs_587663163

3 SubmittersRCV001065547RCV003467829
NM_000396.4(CTSK):c.22C>T (p.Leu8=) SNV
Germline		 Chr1:150806784 Conflicting classifications of pathogenicity Pyknodysostosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1080594 rs_138360770

3 SubmittersRCV001099376RCV001515259
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) SNV
Germline		 Chr1:150799582 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA30095571 rs_199919553

5 SubmittersRCV001236857RCV001834056
NM_000396.4(CTSK):c.547A>C (p.Thr183Pro) SNV
Unknown		 Chr1:150804092 Likely pathogenic Pyknodysostosis No Assertion Criteria Provided
 CA342336479 rs_1654042476

1 SubmittersRCV001290358
NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) SNV
Germline		 Chr1:150804083 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336461 rs_2101951483

1 SubmittersRCV001374469
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) SNV
Germline		 Chr1:150796882 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342335631 rs_2101946013

1 SubmittersRCV001374470
NM_000396.4(CTSK):c.244-29A>G SNV
Germline		 Chr1:150806045 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1139656302 rs_1654085401

5 SubmittersRCV001261622RCV002537623
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter) SNV
Germline		 Chr1:150806801 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337774 rs_1654102585

1 SubmittersRCV001261623
NM_000396.4(CTSK):c.827A>G (p.His276Arg) SNV
Germline		 Chr1:150799231 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342335833 rs_2101947647

1 SubmittersRCV001374738
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) SNV
Germline		 Chr1:150806208 Conflicting classifications of pathogenicity Condition: not provided
not specified
Pyknodysostosis		 Criteria Provided
Conflicting Classifications
 CA1080567 rs_200870056

3 SubmittersRCV001377128RCV003331140RCV005038161
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter) SNV
Germline		 Chr1:150804220 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342336763 rs_2101951671

2 SubmittersRCV001390449RCV003469773
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) SNV
Germline		 Chr1:150805896 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080525 rs_759107967

3 SubmittersRCV001390660RCV003469777
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) SNV
Germline		 Chr1:150799582 Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342336034 rs_199919553

3 SubmittersRCV001733850RCV003738095
NM_000396.4(CTSK):c.399+1G>A SNV
Germline		 Chr1:150805860 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336820 rs_2101953129

1 SubmittersRCV001805755
NM_000396.4(CTSK):c.120+1G>T SNV
Germline		 Chr1:150806685 Pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337520 rs_1057517279

1 SubmittersRCV001806411
NM_000396.4(CTSK):c.148T>G (p.Trp50Gly) SNV
Germline		 Chr1:150806197 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337387 rs_2101953595

1 SubmittersRCV001806414
NM_000396.4(CTSK):c.505G>A (p.Asp169Asn) SNV
Germline		 Chr1:150804134 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342336574 rs_2101951545

3 SubmittersRCV001908838RCV004770271
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter) SNV
Germline		 Chr1:150796895 Pathogenic/Likely pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342335669 rs_1237746431

3 SubmittersRCV002035342RCV003471120
NM_000396.4(CTSK):c.658A>T (p.Lys220Ter) SNV
Germline		 Chr1:150799670 Pathogenic/Likely pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342336214 rs_1225660627

3 SubmittersRCV002310009RCV003099150
NM_000396.4(CTSK):c.616C>T (p.Gln206Ter) SNV
Unknown		 Chr1:150804023 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336326 rs_199555702

1 SubmittersRCV002308046
NM_000396.4(CTSK):c.334G>T (p.Glu112Ter) SNV
Unknown		 Chr1:150805926 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336964 rs_587775407

1 SubmittersRCV002308056
NM_000396.4(CTSK):c.163A>T (p.Lys55Ter) SNV
Unknown		 Chr1:150806182 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337353 rs_2525178672

1 SubmittersRCV002309173
NM_000396.4(CTSK):c.214G>T (p.Glu72Ter) SNV
Unknown		 Chr1:150806131 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337239 rs_2525178470

1 SubmittersRCV002309321
NM_000396.4(CTSK):c.417T>A (p.Cys139Ter) SNV
Unknown		 Chr1:150804222 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342336768 rs_2525174048

1 SubmittersRCV002306978
NM_000396.4(CTSK):c.127G>T (p.Glu43Ter) SNV
Unknown		 Chr1:150806218 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337429 rs_2525178878

1 SubmittersRCV002307227
NM_000396.4(CTSK):c.397C>T (p.Gln133Ter) SNV
Unknown		 Chr1:150805863 Likely pathogenic Pyknodysostosis Criteria Provided
Multiple Submitters
No Conflicts
 CA342336826 rs_1654079662

2 SubmittersRCV002310357
NM_000396.4(CTSK):c.908G>A (p.Gly303Glu) SNV
Germline		 Chr1:150796881 Pathogenic Condition: not provided
Pyknodysostosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1080394 rs_756250449

2 SubmittersRCV002648199RCV005239706
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter) SNV
Unknown		 Chr1:150806728 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 CA342337623 rs_2525180527

1 SubmittersRCV003468563
NM_000396.4(CTSK):c.150G>A (p.Trp50Ter) SNV
Germline		 Chr1:150806195 Pathogenic Pyknodysostosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA342337382 rs_2525178794

2 SubmittersRCV003485990RCV003575112
NM_000396.4(CTSK):c.274G>T (p.Gly92Ter) SNV
Unknown		 Chr1:150805986 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 rs_768992778

1 SubmittersRCV004575713
NM_000396.4(CTSK):c.20T>C (p.Leu7Pro) SNV
Unknown		 Chr1:150806786 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter
 rs_1654101631

1 SubmittersRCV004575714
NM_000396.4(CTSK):c.784+1G>C SNV
Germline		 Chr1:150799543 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter

1 SubmittersRCV005045604
NM_000396.4(CTSK):c.564T>G (p.Tyr188Ter) SNV
Germline		 Chr1:150804075 Likely pathogenic Pyknodysostosis Criteria Provided
Single Submitter

1 SubmittersRCV005039651