All variants in the MKKS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_170784.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. - c.? r.(?) p.? - likely pathogenic (recessive) g.? - BBS6:C499S - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic (recessive) g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.? - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - LOVD
+/. - c.? r.(?) p.? - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.F94SfsX9 - pathogenic g.? - [F94SfsX9]+[F94SfsX9] - DNMT3B_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.T501M];[p.R525H] - DNMT3B_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. 1 c.-3436C>T r.(?) p.? - VUS g.10417543G>A - BBS6: c.-3436C>T - MKKS_000099 - PubMed: M'hamdi-2014 - - Germline - - - 0 - LOVD
+/. 1 c.? r.(?) p.? - pathogenic g.10417543G>A - c.-3436C >T - MKKS_000099 - PubMed: Mhamdi_2013 - - Unknown - - - 0 - LOVD
-/. 3 c.16G>A r.(?) p.(Ala6Thr) - benign g.10394147C>T g.10413499C>T MKKS(NM_018848.3):c.16G>A (p.A6T) - MKKS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.16G>A r.(?) p.(Ala6Thr) - benign g.10394147C>T - MKKS(NM_018848.3):c.16G>A (p.A6T) - MKKS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.59A>G r.(?) p.(Glu20Gly) - VUS g.10394104T>C - MKKS(NM_018848.3):c.59A>G (p.E20G) - MKKS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 3 c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C g.10413448T>C c.67T>C / g.10394096A>G - MKKS_000048 - Journal: Lim 2014 - - Germline no - - 0 - Marianne Vos (LOVD-team)
-?/. 3 c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C g.10413448T>C MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G) - MKKS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C - MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G) - MKKS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C g.10413405T>C - - MKKS_000005 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic (recessive) g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Eichers-2009, Katsanis 2002 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - c.110A>G - MKKS_000005 - PubMed: Schaefer-2011 - - Germline - - - 0 - LOVD
-?/. 3 c.114C>T r.(?) p.(Gly38=) - likely benign g.10394049G>A g.10413401G>A MKKS(NM_018848.3):c.114C>T (p.G38=) - MKKS_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic g.10394047G>A - c.116C>T p.(P39L) - MKKS_000123 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - LOVD
-/. 3 c.117C>T r.(?) p.(Pro39=) - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 3 c.117C>T r.(?) p.(Pro39=) - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 3 c.117C>T r.(=) p.(=) - pathogenic g.10394046G>A - BBS6:c.117C>T - MKKS_000067 - PubMed: Hoskins-2003 - - Germline - - - 0 - LOVD
+/. 3 c.121G>C r.(?) p.(Gly41Arg) - pathogenic g.10394042C>G - [G41R]+[G41R] - MKKS_000122 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.121G>C r.(?) p.(Gly41Arg) - likely pathogenic g.10394042C>G - [p.G539D];[p.P632FfsX7] - MKKS_000122 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. 3 c.166A>G r.(?) p.(Thr56Ala) - VUS g.10393997T>C g.10413349T>C MKKS(NM_018848.3):c.166A>G (p.T56A) - MKKS_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 3 c.169A>G r.(?) p.(Thr57Ala) - VUS g.10393994T>C g.10413346T>C MKKS(NM_018848.3):c.169A>G (p.T57A) - MKKS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.169A>G r.(?) p.(Thr57Ala) - likely pathogenic g.10393994T>C - BBS6:c.169A>G - MKKS_000006 - PubMed: Muller-2010, Katsanis 2000 - - Germline - - - 0 - LOVD
-/. 3 c.207C>T r.(?) p.(Val69=) - benign g.10393956G>A g.10413308G>A MKKS(NM_018848.3):c.207C>T (p.V69=) - MKKS_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. 3 c.269A>G r.(?) p.(Asp90Gly) - likely pathogenic g.10393894T>C g.10413246T>C - - MKKS_000046 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - María González-del Pozo
+/. 3 c.269A>G r.(?) p.(Asp90Gly) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
+?/. - c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G g.10413220A>G - - MKKS_000097 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) - pathogenic g.10393868A>G - [C99R]+[C99R] - MKKS_000097 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G - [c.197+1G>T];[p.L600S] - MKKS_000097 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
-?/. - c.336A>G r.(?) p.(Thr112=) - likely benign g.10393827T>C g.10413179T>C MKKS(NM_018848.3):c.336A>G (p.T112=) - MKKS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.363A>C r.(?) p.(Lys121Asn) - VUS g.10393800T>G g.10413152T>G MKKS(NM_018848.3):c.363A>C (p.K121N) - MKKS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.380del r.(?) p.(Cys127Serfs*32) - likely pathogenic g.10393783del - BBS6:c.380delG - MKKS_000121 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
-?/. 3 c.416G>A r.(?) p.(Arg139Gln) - likely benign g.10393747C>T g.10413099C>T MKKS(NM_018848.3):c.416G>A (p.R139Q) - MKKS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.416G>A r.(?) p.(Arg139Gln) - benign g.10393747C>T g.10413099C>T - - MKKS_000064 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145045986 Germline - 2/2795 individuals - 0 - Mohammed Faruq
-?/. - c.420C>T r.(?) p.(Ile140=) - likely benign g.10393743G>A g.10413095G>A MKKS(NM_018848.3):c.420C>T (p.I140=) - MKKS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.429delCT r.(?) p.? - unclassified g.10393734delAG - [p.G119S; p.Y263H] - MKKS_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
?/. 3 c.429_433delinsTT r.(?) p.(Phe144_Ser145delinsCys) - unclassified g.10393730_10393734delinsAA - c.429delCT433delAG - MKKS_000105 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
+?/. 3 c.433delAG r.(?) p.? - likely pathogenic g.10393730delCT - [p.L55P];[p.E274VfsX29] - MKKS_000119 - PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
?/. - c.485C>T r.(?) p.(Pro162Leu) - VUS g.10393678G>A g.10413030G>A MKKS(NM_018848.3):c.485C>T (p.P162L) - MKKS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 c.534C>T r.(?) p.(Ile178=) - benign g.10393629G>A g.10412981G>A MKKS(NM_018848.3):c.534C>T (p.I178=) - MKKS_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 3 c.534C>T r.(?) p.(Ile178=) - benign g.10393629G>A g.10412981G>A MKKS(NM_018848.3):c.534C>T (p.I178=) - MKKS_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 3 c.541G>C r.(?) p.(Ala181Pro) - pathogenic g.10393622C>G - 541G>C - MKKS_000115 - PubMed: Fauser-2003 - - Unknown - - - 0 - LOVD
+/. 3 c.541G>C r.(?) p.(Ala181Pro) - pathogenic g.10393622C>G - 541G>C - MKKS_000115 - PubMed: Fauser-2003 - - Unknown - - - 0 - LOVD
-?/. - c.636C>T r.(?) p.(Ser212=) - likely benign g.10393527G>A g.10412879G>A MKKS(NM_018848.3):c.636C>T (p.S212=) - MKKS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 c.676C>A r.(?) p.(Gln226Lys) - VUS g.10393487G>T g.10412839G>T MKKS(NM_018848.3):c.676C>A (p.Q226K) - MKKS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.706T>C r.(?) p.(Ser236Pro) - likely pathogenic g.10393457A>G - BBS6:S236P - MKKS_000114 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - 0 - LOVD
+/. 3 c.709A>C r.(?) p.(Thr237Pro) - pathogenic g.10393454T>G - c.709A4C - MKKS_000103 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
?/. 3 c.709A>G r.(?) p.(Thr237Ala) - VUS g.10393454T>C - c.709A>G - MKKS_000104 - PubMed: Hichri-2005 - - Unknown - - - 0 - LOVD
?/. - c.724G>A r.(?) p.(Ala242Thr) - VUS g.10393439C>T g.10412791C>T MKKS(NM_018848.3):c.724G>A (p.A242T) - MKKS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A g.10412791C>A c.724C>A - MKKS_000016 g.10393439G>T Journal: Lim 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
-/. 3 c.724G>T r.(?) p.(Ala242Ser) - benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A MKKS(NM_018848.3):c.724G>T (p.A242S) - MKKS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A g.10412791C>A - - MKKS_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315394 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.724G>T r.(?) p.(Ala242Ser) - pathogenic g.10393439C>A g.10412791C>A - - MKKS_000016 dominant-negative PubMed: Lindstrand 2016 - - Germline - - - 0 - LOVD
?/. - c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A g.10412791C>A NM_018848.3:c.724G>T - MKKS_000016 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic (recessive) g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
-?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely benign g.10393439C>A - BBS6: c.72>G>T - MKKS_000016 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - BBS6:A242S - MKKS_000016 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - [A242S]+[=] - MKKS_000016 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. 3 c.724G>T r.(?) p.(Ala242Ser) - VUS g.10393439C>A - c.[724G>T];[=] - MKKS_000016 - PubMed: Redin-2012 - - Germline - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - [p.M1V];[p.M1V] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - [p.G41R];[p.G41R] - MKKS_000016 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - c.724G>T(h) - MKKS_000016 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 1.7% ; absent in 96 controls - 0 - LOVD
+?/. 3 c.724G>T r.(?) p.(Ala242Ser) - likely pathogenic g.10393439C>A - c.724G>T(h) - MKKS_000016 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 3.4% ; absent in 96 controls - 0 - LOVD
+/. - c.732_733del r.(?) p.(Phe244LeufsTer10) - pathogenic g.10393432_10393433del - MKKS(NM_018848.3):c.732_733delTT (p.F244Lfs*10) - MKKS_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.748G>A r.(?) p.(Gly250Arg) - likely pathogenic g.10393415C>T - c.748G>A - MKKS_000102 - PubMed: Sathya Priya-2015 - - Germline yes - - 0 - LOVD
+/. 3 c.748G>A r.(?) p.(Gly250Arg) - pathogenic g.10393415C>T - BBS6:p.G250R (c.748G>A) - MKKS_000102 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - 0 - LOVD
-/. - c.757T>C r.(?) p.(Ser253Pro) - benign g.10393406A>G g.10412758A>G - - MKKS_000060 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201785599 Germline - 2/2794 individuals - 0 - Mohammed Faruq
?/. 3 c.757T>C r.(?) p.(Ser253Pro) - VUS g.10393406A>G g.10412758A>G T757C - MKKS_000060 - PubMed: Katagiri 2014 - rs201785599 Germline - - - 0 - LOVD
+/. - c.760G>T r.(?) p.(Asp254Tyr) - pathogenic g.10393403C>A g.10412755C>A - - MKKS_000096 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
+/. - c.763dup r.(?) p.(Thr255AsnfsTer15) - pathogenic g.10393400dup - MKKS(NM_018848.3):c.763dupA (p.T255Nfs*15) - MKKS_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.775del r.(?) p.(Thr259Leufs*21) - pathogenic (recessive) g.10393389del g.10412741del g.21483del - MKKS_000089 - - - - Germline - - - 0 - Evren Gümüş
?/. - c.775del r.(?) p.(Thr259Leufs*21) - VUS g.10393389del g.10412741del - - MKKS_000089 - PubMed: Riazuddin 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.830T>C r.(?) p.(Leu277Pro) - likely pathogenic g.10393333A>G g.10412685A>G MKKS(NM_018848.3):c.830T>C (p.L277P) - MKKS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.830T>C r.(?) p.(Leu277Pro) - likely pathogenic g.10393333A>G - MKKS(NM_018848.3):c.830T>C (p.L277P) - MKKS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.837del r.(?) p.(Gly280Glufs*4) ACMG likely pathogenic g.10393326del g.10412678del MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4) - MKKS_000101 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+/. 3 c.837del r.(?) p.(Gly280Glufs*4) - pathogenic g.10393326del - c.837delA (p.Gly280GlufsX4) - MKKS_000101 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
+?/. - c.844C>T r.(?) p.(Gln282*) - likely pathogenic g.10393319G>A g.10412671G>A - - MKKS_000095 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
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