Full data view for gene CTSK

Information The variants shown are described using the NM_000396.3 transcript reference sequence.

119 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-1-473G>A r.(=) p.(=) Unknown - benign g.150779755C>T g.150807279C>T CTSK(NM_000396.4):c.-1-473G>A - CTSK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.3G>A r.(?) p.(Met1Ile) Unknown - likely pathogenic g.150779279C>T g.150806803C>T p.M1I - CTSK_000005 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 2 affected cousins F - Turkey - - - - - 2 Thais Fenz Araujo
+?/. 2 c.3G>A r.(?) p.(Met1Ile) Both (homozygous) - likely pathogenic g.150779279C>T g.150806803C>T p.M1I - CTSK_000005 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 2 affected cousins F yes Turkey - - - - - 2 Thais Fenz Araujo
+?/. 2 c.20T>C r.(?) p.(Leu7Pro) Both (homozygous) - likely pathogenic g.150779262A>G g.150806786A>G p.L9P - CTSK_000006 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 Four affected individuals from four different families Gender: (M,F,M,M) - yes Turkey - - - - - 4 Thais Fenz Araujo
+/. 2 c.20T>C r.(?) p.(Leu7Pro) Parent #1 - pathogenic g.150779262A>G g.150806786A>G - - CTSK_000006 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F no Italy - - - - - 1 Johan den Dunnen
+/. 2 c.26T>C r.(?) p.(Leu9Pro) Both (homozygous) - pathogenic g.150779256A>G g.150806780A>G - - CTSK_000037 - PubMed: Nishi 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Nishi 1999 - - - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.26T>C r.(?) p.(Leu9Pro) Parent #1 - pathogenic g.150779256A>G g.150806780A>G - - CTSK_000037 - PubMed: Nishi 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Nishi 1999 - - - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.26T>C r.(?) p.(Leu9Pro) Both (homozygous) - pathogenic g.150779256A>G g.150806780A>G 131T>C (L9P) - CTSK_000037 - PubMed: Fujita 2000 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fujita 2000 - M no Japan - - - - - 1 Johan den Dunnen
+/. 2 c.26T>C r.(?) p.(Leu9Pro) Parent #1 - pathogenic g.150779256A>G g.150806780A>G - - CTSK_000037 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M no Italy - - - - - 1 Johan den Dunnen
?/. - c.52C>G r.(?) p.(Pro18Ala) Unknown - VUS g.150779230G>C - CTSK(NM_000396.4):c.52C>G (p.(Pro18Ala)) - ARNT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.60_61dup r.(?) p.(Ile21Argfs*29) Both (homozygous) - pathogenic g.150779223_150779224dup g.150806747_150806748dup 60_61dupGA - CTSK_000030 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 3 related patients F;M yes Netherlands Morocco - - - - 3 Johan den Dunnen
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Both (homozygous) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M ? Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Both (homozygous) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M yes Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Both (homozygous) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Both (homozygous) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Both (homozygous) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Maternal (confirmed) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Maternal (confirmed) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Maternal (confirmed) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sisters F no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 2 c.83dup r.(?) p.(Trp29Metfs*10) Paternal (confirmed) - likely pathogenic g.150779199dup g.150806723dup - - CTSK_000001 - PubMed: Araujo et al, 2016 - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
-?/. - c.117C>T r.(?) p.(Asn39=) Unknown - likely benign g.150779165G>A g.150806689G>A CTSK(NM_000396.3):c.117C>T (p.N39=) - CTSK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.120+1G>T r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.150779161C>A g.150806685C>A - - CTSK_000049 - PubMed: Jacob 2025 SUB13970606 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
+/. 2i c.121-1G>A r.121_243del p.Va41_Met81del Parent #1 - pathogenic g.150778701C>T g.150806225C>T - - CTSK_000029 - PubMed: Haagerup 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Haagerup 2000 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Denmark - - - - - 2 Johan den Dunnen
-?/. - c.121G>A r.(?) p.(Val41Met) Unknown - likely benign g.150778700C>T g.150806224C>T CTSK(NM_000396.3):c.121G>A (p.(Val41Met)) - ARNT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.136C>T r.(?) p.(Arg46Trp) Both (homozygous) - pathogenic g.150778685G>A g.150806209G>A C>T (R46W) - CTSK_000028 - PubMed: Schilling 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Schilling 2007 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs F;M yes Germany - - - - - 3 Johan den Dunnen
+/. 3 c.154A>T r.(?) p.(Lys52*) Parent #1 - pathogenic g.150778667T>A g.150806191T>A K52X - CTSK_000027 not in >100 control chromosomes PubMed: Hou 1999, OMIM:var0006 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.235G>A r.(?) p.(Gly79Arg) Parent #1 - pathogenic g.150778586C>T g.150806110C>T 340G>A - CTSK_000026 - PubMed: Fratzl-Zelman 2004 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fratzl-Zelman 2004 - F - Austria - - - - - 1 Johan den Dunnen
+/. 3 c.236G>A r.(?) p.(Gly79Glu) Parent #2 - pathogenic g.150778585C>T g.150806109C>T G79E - CTSK_000025 not in >100 control chromosomes PubMed: Hou 1999, OMIM:var0005 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.236G>A r.236g>a p.Gly79Glu Parent #1 - pathogenic g.150778585C>T g.150806109C>T - - CTSK_000025 - PubMed: Haagerup 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Haagerup 2000 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Denmark - - - - - 2 Johan den Dunnen
+?/. 3 c.238G>T r.(?) p.(Asp80Tyr) Both (homozygous) - likely pathogenic g.150778583C>A g.150806107C>A p.D80Y - CTSK_000007 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 - F no Turkey - - - - - 1 Thais Fenz Araujo
+/. - c.244-29A>G r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.150778521T>C g.150806045T>C NM_000396.3:c.244-29A>G - CTSK_000044 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG2311, 11DG2314, 11DG2315, 13DG0493, 13DG0494 PubMed: Maddirevula 2018 family, 5 affected (5M) M yes - Arab - - - - 5 LOVD
+/. - c.244-29A>G r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.150778521T>C g.150806045T>C NM_000396.3:c.244-29A>G - CTSK_000044 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1644, 12DG1645 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - 2 LOVD
+/. 4 c.259del r.(?) p.(Val87Phefs*4) Parent #2 - pathogenic g.150778478del g.150806002del 363delG - CTSK_000024 - PubMed: Fratzl-Zelman 2004 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fratzl-Zelman 2004 - F - Austria - - - - - 1 Johan den Dunnen
+/. 4 c.282dup r.(?) p.(Val95Serfs*9) Both (homozygous) - pathogenic g.150778456dup g.150805980dup - - CTSK_000023 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F yes Scotland Pakistan - - - - 1 Johan den Dunnen
-?/. - c.302G>A r.(?) p.(Arg101His) Unknown - likely benign g.150778434C>T - CTSK(NM_000396.3):c.302G>A (p.(Arg101His)) - ARNT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.422C>T r.(?) p.(Ala141Val) Both (homozygous) - pathogenic g.150776693G>A g.150804217G>A 546C>T - CTSK_000022 - PubMed: Chavassieux 2008 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Chavassieux 2008 - F - France - - - - - 1 Johan den Dunnen
+/. 5 c.426del r.(?) p.(Phe142Leufs*19) Both (homozygous) - pathogenic g.150776692del g.150804216del 531delT - CTSK_000021 - PubMed: Fujita 2000 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fujita 2000 - F yes Japan - - - - - 1 Johan den Dunnen
+/. 5 c.426del r.(?) p.(Phe142Leufs*19) Both (homozygous) - pathogenic g.150776692del g.150804216del 531delT - CTSK_000021 - PubMed: Fujita 2000 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fujita 2000 - M yes Japan - - - - - 1 Johan den Dunnen
+/. 5 c.436G>C r.436g>c p.Gly146Arg Both (homozygous) - pathogenic g.150776679C>G g.150804203C>G G>C (G146R) - CTSK_000004 - PubMed: Gelb 1996, OMIM:var0002 - rs74315302 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Gelb 1996 2-generation family with 2 affected sibs - - Morocco Arab - - - - 2 Johan den Dunnen
+/. 5 c.436G>C r.436g>c p.Gly146Arg Parent #1 - pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - PubMed: Gelb 1996, OMIM:var0002 - rs74315302 Germline - - BamI - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Gelb 1996 - - no United States Hispanic - - - - 1 Johan den Dunnen
-?/. 5 c.436G>C r.(?) p.(Gly146Arg) Both (homozygous) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 two affected siblings (one male and one female) - no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Both (homozygous) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Four unrelated affected individuals from four consanguineous families. Gender: M(13), M(15), M(19) and F(27). - yes Brazil - - - - - 4 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Maternal (confirmed) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 two affected brothers M no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Both (homozygous) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Paternal (confirmed) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sibs (one male and one female) - no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Parent #1 - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Paternal (confirmed) - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sibs (one male and one female) - no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 5 c.436G>C r.(?) p.(Gly146Arg) Parent #2 - likely pathogenic g.150776679C>G g.150804203C>G - - CTSK_000004 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+/. - c.436G>C r.(?) p.(Gly146Arg) Unknown - pathogenic g.150776679C>G g.150804203C>G CTSK(NM_000396.4):c.436G>C (p.(Gly146Arg)) - CTSK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436G>C r.(?) p.(Gly146Arg) Unknown - pathogenic g.150776679C>G - CTSK(NM_000396.4):c.436G>C (p.(Gly146Arg)) - CTSK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493C>T r.(?) p.(Gln165Ter) Unknown - pathogenic g.150776622G>A - - - CTSK_000047 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.494A>G r.(?) p.(Gln165Arg) Both (homozygous) - pathogenic g.150776621T>C g.150804145T>C - - CTSK_000020 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M yes Tunisia - - - - - 1 Johan den Dunnen
?/. - c.495G>C r.(?) p.(Gln165His) Unknown - VUS g.150776620C>G - CTSK(NM_000396.4):c.495G>C (p.(Gln165His)) - CTSK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.505G>A r.(?) p.(Asp169Asn) Both (homozygous) - likely pathogenic g.150776610C>T g.150804134C>T p.D169N - CTSK_000008 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 - M yes Turkey - - - - - 1 Thais Fenz Araujo
-?/. - c.513G>A r.(?) p.(Val171=) Unknown - likely benign g.150776602C>T - CTSK(NM_000396.3):c.513G>A (p.V171=) - CTSK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.560A>C r.(?) p.(Gln187Pro) Both (homozygous) - pathogenic g.150776555T>G g.150804079T>G 684A>C - CTSK_000019 - PubMed: Li 2009 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Li 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 5 c.568C>T r.(?) p.(Gln190*) Both (homozygous) - pathogenic g.150776547G>A g.150804071G>A Q190X - CTSK_000018 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.568C>T r.(?) p.(Gln190Ter) Both (homozygous) - likely pathogenic (recessive) g.150776547G>A g.150804071G>A - - CTSK_000018 - PubMed: Jacob 2025 SCV002053986.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
+?/. 5 c.580G>A r.(?) p.(Gly194Ser) Paternal (confirmed) - likely pathogenic g.150776535C>T g.150804059C>T - - CTSK_000013 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 two affected brothers M no Brazil - - - - - 2 Thais Fenz Araujo
+/. 5 c.580G>A r.(?) p.(Gly194Ser) Parent #2 - pathogenic g.150776535C>T g.150804059C>T - - CTSK_000013 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F no Italy - - - - - 1 Johan den Dunnen
+/. 6 c.635A>G r.(?) p.(Tyr212Cys) Parent #1 - pathogenic g.150772169T>C g.150799693T>C Y212C - CTSK_000017 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States Spanish - - - - 1 Johan den Dunnen
-?/. - c.675A>G r.(?) p.(Arg225=) Unknown - likely benign g.150772129T>C - CTSK(NM_000396.3):c.675A>G (p.R225=) - CTSK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.721C>T r.(?) p.(Arg241*) Paternal (confirmed) - pathogenic g.150772083G>A g.150799607G>A p.R241X - CTSK_000002 - - - rs74315303 Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+/. 6 c.721C>T r.721c>u p.Arg241* Parent #2 - pathogenic g.150772083G>A g.150799607G>A 826C>T (R241X) - CTSK_000002 - PubMed: Gelb 1996, OMIM:var0003 - rs74315303 Germline - - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Gelb 1996 - - no United States Hispanic - - - - 1 Johan den Dunnen
+?/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 one female (7) and one male (11) from two unrelated consanguineous families. - yes Brazil - - - - - 2 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Paternal (inferred) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Three unrelated affected males from three consanuineous families. M yes Brazil - - - - - 3 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Maternal (confirmed) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sibs (one male and one female) - no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Paternal (confirmed) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Parent #2 - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Paternal (confirmed) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sisters F no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Maternal (confirmed) - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 Two affected sibs (one male and one female) - no Brazil - - - - - 2 Thais Fenz Araujo
+?/. 6 c.721C>T r.(?) p.(Arg241*) Parent #1 - likely pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - M no Brazil - - - - - 1 Thais Fenz Araujo
+/. 6 c.721C>T r.(?) p.(Arg241*) Parent #2 - pathogenic g.150772083G>A g.150799607G>A R241X - CTSK_000002 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States Spanish - - - - 1 Johan den Dunnen
+/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - pathogenic g.150772083G>A g.150799607G>A R241X - CTSK_000002 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States Portugese - - - - 1 Johan den Dunnen
+/. 6 c.721C>T r.(?) p.(Arg241*) Parent #2 - pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M no Italy - - - - - 1 Johan den Dunnen
+/. 6 c.721C>T r.(?) p.(Arg241*) Both (homozygous) - pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F no Portugal - - - - - 1 Johan den Dunnen
+/. 6 c.721C>T r.(?) p.(Arg241*) Parent #1 - pathogenic g.150772083G>A g.150799607G>A - - CTSK_000002 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M no Spain - - - - - 1 Johan den Dunnen
+?/. 6 c.746T>C r.(?) p.(Ile249Thr) Both (homozygous) - likely pathogenic g.150772058A>G g.150799582A>G p.I249T - CTSK_000009 - PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 Two affected individuals. One female (8) with consanguineos parents and one male (9) with non-consaguineous parents. - - Turkey - - - - - 2 Thais Fenz Araujo
+/. 6 c.746T>C r.(?) p.(Ile249Thr) Parent #2 - pathogenic g.150772058A>G g.150799582A>G - - CTSK_000009 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M no Spain - - - - - 1 Johan den Dunnen
+/. - c.746T>C r.(?) p.(Ile249Thr) Unknown - pathogenic g.150772058A>G - - - CTSK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.749A>G r.(?) p.(Asp250Gly) Both (homozygous) - pathogenic g.150772055T>C g.150799579T>C - - CTSK_000016 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. 7 c.830C>A r.(?) p.(Ala277Glu) Both (homozygous) - pathogenic g.150771704G>T g.150799228G>T A277E - CTSK_000015 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States Indian - - - - 1 Johan den Dunnen
+/. 7 c.830C>A r.(?) p.(Ala277Glu) Both (homozygous) - pathogenic g.150771704G>T g.150799228G>T A277E - CTSK_000015 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States Portugese - - - - 1 Johan den Dunnen
+?/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - likely pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - - - - Germline yes - - - - DNA SEQ blood - PYKNODYSOSTOSIS - PubMed: Araujo 2016 - F yes Brazil - - - - - 1 Thais Fenz Araujo
+/. 7 c.830C>T r.(?) p.(Ala277Val) Paternal (confirmed) - pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - PubMed: Gelb 1998 - - Germline yes - AciI- - - DNA microscope, microsat, SEQ - - PYKNODYSOSTOSIS - PubMed: Gelb 1998 2-generation family, 1 affected, unaffected heterozygous carrier father, non-carrier mother M - Belgium Belgian;Algerian - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Paternal (inferred) - pathogenic g.150771704G>A g.150799228G>A 935C>T (A277V) - CTSK_000014 homoallelic near chr1 centromere, heteroallelic near both telomeres, establishing partial paternal uniparental isodisomy (meiosis II nondisjunction) PubMed: Gelb 1998, OMIM:var0004 - - Uniparental disomy, paternal allele yes - - - - DNA microscope, microsat, SEQ - - PYKNODYSOSTOSIS - PubMed: Gelb 1998 2-generation family, 1 affected, unaffected heterozygous carrier father, non-carrier mother M - Belgium Belgian;Algerian - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A A277V - CTSK_000014 not in >100 control chromosomes PubMed: Hou 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Hou 1999 - - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - PubMed: Nishi 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Nishi 1999 - - - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - PubMed: Nishi 1999 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Nishi 1999 - - - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A 937C>T (A277V) - CTSK_000014 - PubMed: Fujita 2000 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Fujita 2000 - M no Japan - - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. 7 c.830C>T r.(?) p.(Ala277Val) Both (homozygous) - pathogenic g.150771704G>A g.150799228G>A - - CTSK_000014 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
-/. - c.831= r.(=) p.(Ala277=) Unknown - benign g.150771703T>C - CTSK(NM_000396.4):c.831A>G (p.A277=) - CTSK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.890G>A r.785_890del p.(Gly262Alafs*70) Both (homozygous) - pathogenic g.150771644C>T g.150799168C>T - - CTSK_000036 - PubMed: Donnarumma 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PYKNODYSOSTOSIS - PubMed: Donnarumma 2007 - M yes Canada Egypt - - - - 1 Johan den Dunnen
+?/. 7i c.891-15_891-14ins[HSU18392:g.16_316inv] r.spl p.? Both (homozygous) - likely pathogenic g.150769388_150769389ins[HSU18392:g.16_316] g.150796912_150796913ins[HSU18392:g.16_316] N296fX54 (IVS7-14-15insAlu:HSU18392) - CTSK_000011 301 bp Alu insertion PubMed: Arman 2014 - - Germline yes - - - - DNA SEQ - - PYKNODYSOSTOSIS - PubMed: Arman 2014 Three affected females, two siblings and one unrelated F yes Turkey - - - - - 3 Thais Fenz Araujo
+/. - c.891-1G>A r.spl? p.? Unknown - pathogenic g.150769375C>T - - - CTSK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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