Unique 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.

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

Reported     

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     
-/. 1 - c.53>C>T r.(?) p.(Ile178=) - benign g.10393629G>A g.10412981G>A MKKS 534C>T - MKKS_000062 association study; frequency difference obese/healthy individuals non-significant PubMed: Rouskas 2008 - - Unknown ? CC 171/220 obese subjects, CC 275/330 non-obese controls - - - LOVD
+/., +?/. 7 - c.? r.(?) p.?, p.F94SfsX9 - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.10393205T>A, g.? - BBS6:C499S, BBS6:Q147X, g.10393205T>A*, [F94SfsX9]+[F94SfsX9], [p.T501M];[p.R525H] - DNMT3B_000000, MKKS_000099 - PubMed: Anasagasti-2013, PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Katsanis-2001, 1 more item - - Germline, Unknown yes - - - - LOVD
+/. 1 - c.-7485893_*1185894del r.0? p.0? - pathogenic g.9200001_17900000del g.9200001_17900000del JAG1 del20p12.1-p12.2, - JAG1_000783 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD
?/. 1 1 c.-3436C>T r.(?) p.? - VUS g.10417543G>A - BBS6: c.-3436C>T - MKKS_000099 - PubMed: M'hamdi-2014 - - Germline - - - - - LOVD
+/. 1 1 c.? r.(?) p.? - pathogenic g.10417543G>A - c.-3436C >T - MKKS_000099 - PubMed: M'hamdi 2014 - - Unknown - - - - - LOVD
-?/. 1 - c.-649+2430T>G r.(=) p.(=) - likely benign g.10412326A>C - MKKS(NM_018848.3):c.-649+6T>G - MKKS_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-417-13dup r.(=) p.(=) - likely benign g.10394599dup - MKKS(NM_018848.3):c.-417-13dupT - MKKS_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 _3_6_ c.(?_-417-1)_*467{0} r.0 p.0 - VUS g.(?_2639084)_(10394167_?)del - chr20:2639084-10394167 - MKKS_000000 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
?/. 1 3 c.3G>H r.? p.? - VUS g.10394160C>A - BBS6:p.[M1I];[Y37C] - MKKS_000127 - PubMed: Scheidecker 2015 - - Germline - - - - - LOVD
-/. 2 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - 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 3 c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C g.10413448T>C c.67T>C / g.10394096A>G, MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G) - MKKS_000048 VKGL data sharing initiative Nederland Journal: Lim 2014 - - CLASSIFICATION record, Germline no - - - - Marianne Vos (LOVD-team), VKGL-NL_Leiden, VKGL-NL_Utrecht
+/., +?/., ?/. 17 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic, likely pathogenic (recessive), pathogenic, VUS g.10394053T>C g.10413405T>C BBS6:c.110A>G, BBS6:p.[M1I];[Y37C], BBS6:Y37C, c.110A>G, MKKS 997A->G, Y37C, MKKS Y37C, 1 more item - MKKS_000005 homozygous, obsolete nucletotide annotation, it should be c.110A>G and not 997A->G; heterozygous, 1 more item PubMed: Eichers-2009, Katsanis 2002, PubMed: Feuillan-2011, PubMed: Katsanis 2000, PubMed: Stone 2000, 5 more items - - CLASSIFICATION record, Germline yes 0/188 European or 24 Newfoundland unrelated control chromosomes, 1 more item - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 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 - - - - - VKGL-NL_Rotterdam
+?/. 3 3 c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic g.10394047G>A g.10413399G>A c.116C>T p.(P39L), MKKS c.116C>T, p.(Pro39Leu) - MKKS_000123 homozygous PubMed: Abu-Safieh-2012, PubMed: Aldahmesh 2014 - - Germline ? 0/96 ethnically matched controls - - - LOVD
+/., -/. 4 3 c.117C>T r.(=), r.(?) p.(=), p.(Pro39=) - benign, pathogenic g.10394046G>A g.10413398G>A BBS6:c.117C>T, MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland PubMed: Hoskins-2003, PubMed: Smaoui 2006 - rs17852626 CLASSIFICATION record, Germline - 4/19 families BBS - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 3 3 c.119C>G r.(?) p.(Ser40*) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - - - LOVD
+/., +?/. 2 3 c.121G>C r.(?) p.(Gly41Arg) - likely pathogenic, pathogenic g.10394042C>G - [G41R]+[G41R], [p.G539D];[p.P632FfsX7] - MKKS_000122 - PubMed: Billingsley-2010, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
+?/. 1 - c.155G>A r.(?) p.(Gly52Asp) - likely pathogenic g.10394008C>T - MKKS 1042G->A, G52D - MKKS_000151 obsolete nucletotide annotation, it should be c.155G>A and not 1042G->A; heterozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 chromosomes from Hispanic controls - - - LOVD
?/. 1 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 - - - - - VKGL-NL_Rotterdam
+?/., ?/. 3 3 c.169A>G r.(?) p.(Thr57Ala) - likely pathogenic, VUS g.10393994T>C g.10413346T>C BBS6:c.169A>G, MKKS T57A, MKKS(NM_018848.3):c.169A>G (p.T57A) - MKKS_000006 single heterozygous, no second allele found, VKGL data sharing initiative Nederland PubMed: Katsanis 2000, PubMed: Muller-2010, Katsanis 2000 - - CLASSIFICATION record, Germline yes 0/192 European or 24 Newfoundland unrelated control chromosomes - - - VKGL-NL_Rotterdam
-/. 1 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 - - - - - VKGL-NL_AMC
+?/. 1 - c.250C>T r.(?) p.(His84Tyr) - likely pathogenic g.10393913G>A g.10413265G>A MKKS 1137C->T, H84Y - MKKS_000150 1 more item PubMed: Stone 2000 - - Germline yes 0/200 chromosomes from the non-Amish control group - - - LOVD
+/., +?/. 4 3 c.269A>G r.(?) p.(Asp90Gly) - likely pathogenic, pathogenic g.10393894T>C g.10413246T>C c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013, PubMed: González-del Pozo 2014 - - Germline yes - - - - María González-del Pozo
+?/. 9 - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS 1167 delT, MKKS fs2=280delT (F94fsX103) - MKKS_000149 heterozygous, homozygous, 2 more items PubMed: Katsanis 2000, PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes, 1 more item - - - LOVD
+?/. 2 - c.287C>T r.(?) p.(Ala96Val) - likely pathogenic g.10393876G>A g.10413228G>A MKKS c.287C>T, p.Ala96Val - MKKS_000155 homozygous PubMed: Ullah 2018 - - Germline yes - - - - LOVD
+/., +?/. 5 3 c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic, pathogenic, pathogenic (recessive) g.10393868A>G g.10413220A>G BBS6:c.[295T>C];[492T>A], MKKS c.29ST >C p.(Cys99Arg), [c.197+1G>T];[p.L600S], 1 more item - MKKS_000097 homozygous PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Mary-2019, PubMed: Méjécase 2020, 1 more item - - Germline, Unknown ? - - - - LOVD
-?/. 1 - 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
?/. 1 - 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
+?/. 1 3 c.380del r.(?) p.(Cys127Serfs*32) - likely pathogenic g.10393783del - BBS6:c.380delG - MKKS_000121 - PubMed: Feuillan-2011 - - Germline - - - - - LOVD
+?/. 1 - c.415C>T r.(?) p.(Arg139*) - likely pathogenic g.10393748G>A g.10413100G>A BBS6 c.415C>T, p.Arg139X - MKKS_000148 heterozygous PubMed: Putoux 2010 - - Germline yes - - - - LOVD
+?/., -/., -?/. 3 3 c.416G>A r.(?) p.(Arg139Gln) - benign, likely benign, likely pathogenic g.10393747C>T g.10413099C>T MKKS(NM_018848.3):c.416G>A (p.R139Q), MKKS/BBS6 c.416G>A, p.Arg139Gln - MKKS_000064 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Kang 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs145045986 CLASSIFICATION record, Germline, Unknown ? 2/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - 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
?/. 1 3 c.429delCT r.(?) p.? - unclassified g.10393734delAG - [p.G119S; p.Y263H] - MKKS_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - - - LOVD
?/. 1 3 c.429_433delinsTT r.(?) p.(Phe144_Ser145delinsCys) - unclassified g.10393730_10393734delinsAA - c.429delCT433delAG - MKKS_000105 - PubMed: Hichri-2005 - - Unknown - - - - - LOVD
+?/. 6 - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA g.10413081_10413086delinsAA MKKS 1316delC and 1324-1326delGTA, MKKS fs1=429delCT/433delAG (D143fsX157) - MKKS_000147 heterozygous, homozygous, 1 more item PubMed: Katsanis 2000, PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes, 1 more item - - - LOVD
+?/. 1 - c.431_441delTTAGTAGTACT r.(?) p.(Phe144Serfs*9) - likely pathogenic g.10393725_10393735del g.10413077_10413087del MKKS c.431_441delTTAGTAGTACT - MKKS_000146 homozygous PubMed: Slavotinek 2002 - - Germline yes - - - - LOVD
+?/. 1 - c.432_435del r.(?) p.(Phe144Leufs*14) ACMG likely pathogenic g.10393729_10393732del g.10413081_10413084del MKKS, c.432_435delTAGT, p.Phe144Leufs*14, homozygous - MKKS_000134 - PubMed: Perea-Romero 2021 - - Unknown ? - - - - LOVD
+?/. 1 3 c.433delAG r.(?) p.? - likely pathogenic g.10393730delCT - [p.L55P];[p.E274VfsX29] - MKKS_000119 - PubMed: Imhoff-2011 - - Unknown - - - - - LOVD
+?/. 1 - c.442C>T r.(?) p.(Gln148*) - pathogenic (recessive) g.10393721G>A g.10413073G>A MKKS c.442C>T, p.(Gln148*) - MKKS_000001 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - - - LOVD
+?/. 1 - c.464G>T r.(?) p.(Arg155Leu) - likely pathogenic g.10393699C>A g.10413051C>A MKKS c.463G->T, p.R155L - MKKS_000145 1 more item PubMed: Slavotinek 2002 - - Germline yes 0/108 ethnically matched control chromosomes - - - LOVD
?/. 1 - 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
+/. 1 3 c.492T>A r.(?) p.(Cys164*) - pathogenic (recessive) g.10393671A>T - BBS6:c.[295T>C];[492T>A] - MKKS_000137 - PubMed: Mary-2019 - - Germline - - - - - LOVD
+?/. 3 - c.518A>C r.(?) p.(His173Pro) - likely pathogenic g.10393645T>G g.10412997T>G MKKS c.518A>C (p.His173Pro) - MKKS_000158 homozygous PubMed: Goya 2020 - - Germline yes 0/150 ethnically-matched controls - - - LOVD
-/. 3 3 c.534C>T r.(?) p.(=), 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 PubMed: Smaoui 2006 - rs17852625 CLASSIFICATION record, Germline - 3/19 families BBS - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 2 3 c.541G>C r.(?) p.(Ala181Pro) - pathogenic g.10393622C>G - 541G>C - MKKS_000115 - PubMed: Fauser-2003 - - Unknown - - - - - LOVD
+?/. 1 - c.589G>T r.(?) p.(Gly197*) - likely pathogenic g.10393574C>A g.10412926C>A MKKS c.589G>T, p.Gly197* - MKKS_000157 homozygous PubMed: Mishima 2020 - - Germline yes - - - - LOVD
+/. 2 3 c.595_596del r.(?) p.(Ser199Phefs*22) - pathogenic g.10393567_10393568del - BBS6:c.595_596delAG - MKKS_000132 - PubMed: Jeziorny-2020 - - Germline - - - - - LOVD
-?/. 1 - 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
?/. 1 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.706T>C r.(?) p.(Ser236Pro) - likely pathogenic g.10393457A>G - BBS6:S236P - MKKS_000114 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - - - LOVD
+?/. 1 - c.707C>A r.(?) p.(Ser236*) - likely pathogenic g.10393456G>T g.10412808G>T MKKS p.Ser236* - MKKS_000154 1 more item PubMed: Garcia-Tizon Larroca 2017 - - Germline yes - - - - LOVD
+/. 1 3 c.709A>C r.(?) p.(Thr237Pro) - pathogenic g.10393454T>G - c.709A4C - MKKS_000103 - PubMed: Hichri-2005 - - Unknown - - - - - LOVD
?/. 1 3 c.709A>G r.(?) p.(Thr237Ala) - VUS g.10393454T>C - c.709A>G - MKKS_000104 - PubMed: Hichri-2005 - - Unknown - - - - - LOVD
?/. 1 - 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
+/., +?/., -/., -?/., ?/. 28 3 c.724G>T r.(?) p.(Ala242Ser) - benign, likely benign, likely pathogenic, likely pathogenic (recessive), pathogenic, VUS g.10393439C>A g.10412791C>A BBS6: c.72>G>T, BBS6:A242S, c.724C>A, c.724G>T(h), c.[724G>T];[=], MKKS A242S, 8 more items - MKKS_000016 1 heterozygous, no homozygous; Clinindb (India), dominant-negative, g.10393439G>T, 7 more items Journal: Lim 2014, PubMed: Billingsley-2010, PubMed: Castro Sanchez 2015, PubMed: Chetta 2011, 10 more items - rs74315394 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ?, yes 0/200 chromosomes from the non-Amish control group, 1.7% ; absent in 96 controls, 1/2795 individuals, 1 more item - - - Marianne Vos (LOVD-team), VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
+/. 1 - 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
+/., +?/. 4 3 c.748G>A r.(?) p.(Gly250Arg) ACMG likely pathogenic, pathogenic g.10393415C>T g.10412767C>T BBS6:p.G250R (c.748G>A), c.748G>A, MKKS c.748G>A, p.(G250R), 1 more item - MKKS_000102 homozygous PubMed: Huang 2021, PubMed: Perea-Romero 2021, PubMed: Pereiro-2010, PubMed: Sathya Priya-2015 - - Germline yes 0/100 ethnically matched control chromosomes. - - - LOVD
+?/. 1 3 c.748G>M r.(?) p.(Gly250Arg) - likely pathogenic g.10393415C>G - p.(Gly250Arg) - MKKS_000126 - PubMed: Castro Sanchez 2015 - - Germline - - - - - LOVD
-/., ?/. 2 3 c.757T>C r.(?) p.(Ser253Pro) - benign, VUS g.10393406A>G g.10412758A>G T757C - MKKS_000060 2 heterozygous, no homozygous; Clinindb (India) PubMed: Katagiri 2014, PubMed: Narang 2020, Journal: Narang 2020 - rs201785599 Germline - 2/2794 individuals - - - Mohammed Faruq
+/. 1 - c.760G>T r.(?) p.(Asp254Tyr) - pathogenic g.10393403C>A g.10412755C>A - - MKKS_000096 - PubMed: Costa 2017 - - Germline - - - - - LOVD
+/. 1 - 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
+/., +?/., ?/. 5 - c.775del r.(?) p.(Thr259Leufs*21) - likely pathogenic, pathogenic, pathogenic (recessive), VUS g.10393389del g.10412741del g.21483del, MKKS (NM_170784) (LOVD #0000638714), c.775del, p.(Thr259Leufs*21), Frameshift, 1 more item - MKKS_000089 homozygous PubMed: Gumus 2021, PubMed: Riazuddin 2017, PubMed: Ullah 2018 - - Germline ?, yes - - - - Johan den Dunnen, Evren Gümüş
+?/. 1 - c.792T>A r.(?) p.(Tyr264*) - likely pathogenic g.10393371A>T - MKKS 1679T->A, Y264stop - MKKS_000144 obsolete nucletotide annotation, it should be c.792T>A and not 1679T->A; heterozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 chromosomes from Hispanic controls - - - LOVD
+/. 2 3 c.792T>G r.(?) p.(Tyr264*) - pathogenic (recessive) g.10393371A>C - BBS6:c.[792T>G];[792T>G] - MKKS_000136 - PubMed: Mary-2019 - - Germline - - - - - LOVD
+?/. 3 3 c.830T>C r.(?) p.(Leu277Pro) - likely pathogenic g.10393333A>G g.10412685A>G MKKS L277P, MKKS(NM_018848.3):c.830T>C (p.L277P) - MKKS_000018 heterozygous, VKGL data sharing initiative Nederland PubMed: Katsanis 2000 - - CLASSIFICATION record, Germline yes 0/145 European or 80 Newfoundland unrelated control chromosomes - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/. 2 3 c.837del r.(?) p.(Gly280Glufs*4) ACMG likely pathogenic, pathogenic g.10393326del g.10412678del c.837delA (p.Gly280GlufsX4), MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4) - MKKS_000101 - PubMed: Duelund Hjortshoj-2010, PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+?/. 1 - c.844C>T r.(?) p.(Gln282*) - likely pathogenic g.10393319G>A g.10412671G>A - - MKKS_000095 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+?/. 3 3 c.871G>T r.(?) p.(Val291Phe) - likely pathogenic g.10393292C>A g.10412644C>A c.871G>T p.(V291F), MKKS p.Val291Phe - MKKS_000118 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Abu-Safieh-2012, PubMed: Garcia-Tizon Larroca 2017 - - Germline yes 0/96 ethnically matched controls - - - LOVD
+?/. 1 - c.876_877insCCTG r.(?) p.(Cys293Profs*35) - likely pathogenic g.10393287_10393290dup g.10412639_10412642dup MKKS c.876_877insCCTG - MKKS_000143 heterozygous; single heterozygous, no second allele found PubMed: Slavotinek 2002 - - Germline yes - - - - LOVD
+/., +?/., ?/. 3 3 c.890T>C r.(?) p.(Ile297Thr) ACMG likely pathogenic, pathogenic, VUS g.10393273A>G g.10412625A>G BBS6:c.890T>C, c.890T>C, MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4) - MKKS_000100 - PubMed: Jespersgaar 2019, PubMed: Muller-2010, PubMed: Schaefer-2011 - - Germline ? - - - - LOVD
+/., +?/. 2 3 c.896C>T r.(?) p.(Pro299Leu) - likely pathogenic, pathogenic g.10393267G>A - [p.L88R];[p.N461KfsX10], [P299L]+[P299L] - MKKS_000117 - PubMed: Billingsley-2010, PubMed: Deveault-2011 - - Germline, Unknown - - - - - LOVD
-?/. 2 3 c.926G>A r.(?) p.(Arg309His) - likely benign g.10393237C>T g.10412589C>T c.926G>A, MKKS(NM_018848.3):c.926G>A (p.R309H) - MKKS_000078 VKGL data sharing initiative Nederland PubMed: Chen-2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC
?/. 1 - c.963G>A r.(?) p.(Met321Ile) - VUS g.10393200C>T - MKKS(NM_018848.3):c.963G>A (p.M321I) - MKKS_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 3 c.973A>C r.(?) p.(Thr325Pro) - likely pathogenic g.10393190T>G - BBS6:T325P - MKKS_000113 - PubMed: Badano-2003, PubMed: Eichers-2009, Beales 2003 - - Germline - - - - - LOVD
-?/. 1 - c.985+10A>C r.(=) p.(=) - likely benign g.10393168T>G - MKKS(NM_018848.3):c.985+10A>C - MKKS_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., -/. 3 3i c.985+16T>G r.(=), r.(?) p.(=), p.? - benign, likely pathogenic g.10393162A>C g.10412514A>C MKKS 985+16T>G, MKKS(NM_018848.3):c.985+16T>G - MKKS_000059 association study; frequency higher among obese individuals than controls (OR = 2.38, P = 0.0019), 1 more item PubMed: Rouskas 2008, PubMed: Smaoui 2006 - rs6133917 CLASSIFICATION record, Germline, Unknown ? 3/19 families BBS, 1 more item - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/., -/. 3 3i c.985+33G>C r.(=), r.(?) p.(=), p.? - benign, pathogenic g.10393145C>G g.10412497C>G BBS6:c.985+33G>C, MKKS 985+33C>G - MKKS_000112 1 more item PubMed: Hoskins-2003, PubMed: Rouskas 2008, PubMed: Smaoui 2006 - rs221667 Germline, Unknown ? 7/19 families BBS, CC 134/220 obese subjects, 218/330 non-obese controls - - - Johan den Dunnen
+?/., -/. 2 - c.986-29A>T r.(?) p.(=), p.? - benign, likely pathogenic g.10389480T>A g.10408832T>A MKKS 986-29A>T - MKKS_000153 association study; frequency higher among obese individuals than controls (OR = 1.56, P = 0.0 414) PubMed: Rouskas 2008, PubMed: Smaoui 2006 - rs764266 Germline, Unknown ? 2/19 families BBS, 1 more item - - - Johan den Dunnen
+?/. 3 3i c.986-1G>A r.spl, r.spl? p.? - likely pathogenic g.10389452C>T g.10408804C>T c.986-1G>A, MKKS c.986-1G>A - MKKS_000125 homozygous PubMed: Aizawa 2020, PubMed: Yamamura 2018 - - Germline yes - - - - LOVD
-?/. 1 - c.1006C>G r.(?) p.(Leu336Val) - likely benign g.10389431G>C g.10408783G>C MKKS(NM_018848.3):c.1006C>G (p.L336V) - MKKS_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., -/., -?/., ?/. 16 4 c.1015A>G r.(?) p.(Ile339Val) - benign, likely benign, likely pathogenic, VUS g.10389422T>C g.10408774T>C BBS6: c.1015A>G, c.1015A>G, MKKS c.1015A>G, p.339 Ile>Val, MKKS c.1015G->A, p.I339V, 2 more items - MKKS_000015 VKGL data sharing initiative Nederland, 2 more items PubMed: Bryant 2018, PubMed: Chetta 2011, PubMed: Duelund Hjortshoj-2010, PubMed: Hichri-2005, 3 more items - rs137853909 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ?, yes 0/100 ethnically matched control chromosomes - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 3 4 c.1034G>A r.(?) p.(Gly345Glu) - likely pathogenic g.10389403C>T g.10408755C>T MKKS c.1034G->A, p.G345E, MKKS(NM_018848.3):c.1034G>A (p.G345E) - MKKS_000013 homozygous, VKGL data sharing initiative Nederland PubMed: Slavotinek 2002 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.1160A>G r.(?) p.(Lys387Arg) - VUS g.10389277T>C g.10408629T>C MKKS(NM_018848.3):c.1160A>G (p.K387R) - MKKS_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 4i c.1161+3A>G r.spl? p.? - likely benign g.10389273T>C g.10408625T>C MKKS(NM_018848.3):c.1161+3A>G - MKKS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1161+5G>A r.spl? p.? - VUS g.10389271C>T - MKKS(NM_018848.3):c.1161+5G>A - MKKS_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 4i c.1161+16del r.(=) p.(=) - likely benign g.10389262del g.10408614del MKKS(NM_018848.3):c.1161+16delT - MKKS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 1 - c.1161+58A>G r.(?) p.? - benign g.10389218T>C g.10408570T>C MKKS 1161+58A>G - MKKS_000152 association study; frequency difference obese/healthy individuals non-significant PubMed: Rouskas 2008 - - Unknown ? AA 172/220, AG/GG 46/220 obese subjects, AA 275/330, AG/GG 52/330 non-obese controls - - - LOVD
-?/. 1 4i c.1162-12del r.(=) p.(=) - likely benign g.10388388del g.10407740del MKKS(NM_018848.3):c.1162-12delG - MKKS_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1167G>A r.(?) p.(Thr389=) - likely benign g.10388369C>T g.10407721C>T MKKS(NM_018848.3):c.1167G>A (p.T389=) - MKKS_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 2 5 c.1175C>T r.(?) p.(Thr392Met) - likely pathogenic, VUS g.10388361G>A - c.1175C>T - MKKS_000129 VKGL data sharing initiative Nederland PubMed: Qi_2017 - rs201183584 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
-/. 1 5 c.1176G>A r.(?) p.(Thr392=) - benign g.10388360C>T g.10407712C>T MKKS(NM_018848.3):c.1176G>A (p.T392=) - MKKS_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 4 - c.1184A>G r.(?) p.(His395Arg) - likely pathogenic, VUS g.10388352T>C g.10407704T>C MKKS c.1184A>G, p.H395R, MKKS(NM_018848.3):c.1184A>G (p.(His395Arg)) - MKKS_000087 VKGL data sharing initiative Nederland, 1 more item PubMed: Hulleman 2016 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/., +?/. 4 5 c.1186G>T r.(?) p.(Val396Phe) - likely pathogenic, pathogenic g.10388350C>A g.10407702C>A c.1186G>T; p.V396F - MKKS_000047 - PubMed: Gonzalez del Pozo 2013, PubMed: González-del Pozo 2014 - - Germline yes - - - - María González-del Pozo
+/. 1 5 c.1192C>T r.(?) p.(Gln398*) - pathogenic g.10388344G>A - c.1192C>T - MKKS_000128 - PubMed: Qi_2017 - - Germline - - - - - LOVD
+?/. 2 5 c.1225_1226del r.(?) p.(Gly409Argfs*5) - likely pathogenic g.10388310_10388311del, g.10388311_10388312del g.10407663_10407664del BBS6:c.1225_1226delGG, MKKS 2111-2112delGG - MKKS_000116 obsolete nucletotide annotation, it should be c.1225_1226del and not 2111-2112delGG; hete PubMed: Feuillan-2011, PubMed: Stone 2000 - - Germline yes 0/200 chromosomes from the non-Amish control group - - - LOVD
+?/. 2 5 c.1232G>C r.(?) p.(Gly411Ala) - likely pathogenic g.10388304C>G g.10407656C>G c.1232G>C/p.(G411A) - MKKS_000074 homozygous PubMed: Castro-Sanchez 2019 - - Germline yes - - - - Sheila Castro-Sánchez
+?/. 2 - c.1235G>C r.(?) p.(Cys412Ser) - likely pathogenic g.10388301C>G g.10407653C>G MKKS c.1235G > C, p.(Cys412Ser) - MKKS_000131 homozygous; probably only one mutation contribute to milder phenotype, 1 more item PubMed: Beigi 2021 - - Germline yes - - - - LOVD
+?/. 1 5 c.1235G>T c.1235G>T p.(Cys412Phe) ACMG likely pathogenic g.10388301C>A g.10407653C>A BBS6 c.1235G>T, p.(Cys412Phe) - MKKS_000111 homozygous PubMed: Manara 2019 - - Germline yes - - - - LOVD
+/., +?/. 4 5 c.1239_1242dup r.(?) p.(Thr415*), p.(Thr415Ter) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.10388294_10388297dup g.10407646_10407649dup BBS6:c.[1239_1242dup];[1478del], MKKS c.1239_1242dup, p.(Thr415*), 1 more item - MKKS_000071 single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019, PubMed: Mary-2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Leiden
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