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.

85 entries on 1 page. Showing entries 1 - 85.
Legend   How to query  

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     
+/., +?/. 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 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: Mhamdi_2013 - - Unknown - - - - - 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
+/., +?/. 13 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic, likely pathogenic (recessive), pathogenic g.10394053T>C g.10413405T>C BBS6:c.110A>G, BBS6:Y37C, c.110A>G, MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland PubMed: Eichers-2009, Katsanis 2002, PubMed: Feuillan-2011, PubMed: Katsanis-2001, PubMed: Stone 2017, 2 more items - - CLASSIFICATION record, Germline - - - - - 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
+?/. 1 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 - - - LOVD
+/., -/. 3 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 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/. 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 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
+?/., ?/. 2 3 c.169A>G r.(?) p.(Thr57Ala) - likely pathogenic, VUS g.10393994T>C g.10413346T>C BBS6:c.169A>G, MKKS(NM_018848.3):c.169A>G (p.T57A) - MKKS_000006 VKGL data sharing initiative Nederland PubMed: Muller-2010, Katsanis 2000 - - CLASSIFICATION record, Germline - - - - - 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 3 c.269A>G r.(?) p.(Asp90Gly) - likely pathogenic g.10393894T>C g.10413246T>C - - MKKS_000046 - PubMed: González-del Pozo 2014 - - Germline yes - - - - María González-del Pozo
+/., +?/. 3 3 c.295T>C r.(?) p.(Cys99Arg) - likely pathogenic, pathogenic g.10393868A>G g.10413220A>G [c.197+1G>T];[p.L600S], [C99R]+[C99R] - MKKS_000097 - PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Patel 2016 - - 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
-/., -?/. 2 3 c.416G>A r.(?) p.(Arg139Gln) - benign, likely benign g.10393747C>T g.10413099C>T MKKS(NM_018848.3):c.416G>A (p.R139Q) - MKKS_000064 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs145045986 CLASSIFICATION record, Germline - 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
+?/. 1 3 c.433delAG r.(?) p.? - likely pathogenic g.10393730delCT - [p.L55P];[p.E274VfsX29] - MKKS_000119 - PubMed: Imhoff-2011 - - Unknown - - - - - 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
-/. 2 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 - - - - - 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.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 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
+/., +?/., -/., -?/., ?/. 20 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];[=], [A242S]+[=], 4 more items - MKKS_000016 1 heterozygous, no homozygous; Clinindb (India), dominant-negative, g.10393439G>T, 3 more items Journal: Lim 2014, PubMed: Billingsley-2010, PubMed: Deveault-2011, PubMed: Duelund Hjortshoj-2010, 7 more items - rs74315394 CLASSIFICATION record, Germline, Unknown yes 1.7% ; absent in 96 controls, 1/2795 individuals, 3.4% ; absent in 96 controls - - - Marianne Vos (LOVD-team), 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
+/., +?/. 2 3 c.748G>A r.(?) p.(Gly250Arg) - likely pathogenic, pathogenic g.10393415C>T - BBS6:p.G250R (c.748G>A), c.748G>A - MKKS_000102 - PubMed: Pereiro-2010, PubMed: Sathya Priya-2015 - - Germline yes 0/100 ethnically matched control chromosomes. - - - 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
+/., ?/. 2 - c.775del r.(?) p.(Thr259Leufs*21) - pathogenic (recessive), VUS g.10393389del g.10412741del g.21483del - MKKS_000089 - PubMed: Riazuddin 2017 - - Germline - - - - - Johan den Dunnen, Evren Gümüş
+?/. 2 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 - - - - - 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
+?/. 2 3 c.871G>T r.(?) p.(Val291Phe) - likely pathogenic g.10393292C>A - c.871G>T p.(V291F) - MKKS_000118 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - - - 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
+?/. 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 3i c.985+16T>G r.(=) p.(=) - benign g.10393162A>C g.10412514A>C MKKS(NM_018848.3):c.985+16T>G - MKKS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3i c.985+33G>C r.(=) p.(=) - pathogenic g.10393145C>G - BBS6:c.985+33G>C - MKKS_000112 - PubMed: Hoskins-2003 - - Germline - - - - - 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
-/., -?/., ?/. 14 4 c.1015A>G r.(?) p.(Ile339Val) - benign, likely benign, VUS g.10389422T>C g.10408774T>C BBS6: c.1015A>G, c.1015A>G, MKKS(NM_018848.3):c.1015A>G (p.I339V), NM_018848.3:c.1015A>G - MKKS_000015 VKGL data sharing initiative Nederland PubMed: Bryant 2018, PubMed: Duelund Hjortshoj-2010, PubMed: Hichri-2005, PubMed: Khan 2016, 1 more item - rs137853909 CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 2 4 c.1034G>A r.(?) p.(Gly345Glu) - likely pathogenic g.10389403C>T g.10408755C>T MKKS(NM_018848.3):c.1034G>A (p.G345E) - MKKS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - 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 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_VUmc
-?/. 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
-/. 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
+?/. 1 - c.1184A>G r.(?) p.(His395Arg) - likely pathogenic g.10388352T>C g.10407704T>C MKKS(NM_018848.3):c.1184A>G (p.(His395Arg)) - MKKS_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 5 c.1186G>T r.(?) p.(Val396Phe) - likely pathogenic g.10388350C>A g.10407702C>A - - MKKS_000047 - PubMed: González-del Pozo 2014 - - Germline yes - - - - María González-del Pozo
+?/. 1 5 c.1225_1226del r.(?) p.(Gly409Argfs*5) - likely pathogenic g.10388310_10388311del - BBS6:c.1225_1226delGG - MKKS_000116 - PubMed: Feuillan-2011 - - Germline - - - - - 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
+?/. 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
+/., +?/. 2 - c.1239_1242dup r.(?) p.(Thr415*), p.(Thr415Ter) ACMG likely pathogenic, pathogenic g.10388294_10388297dup g.10407646_10407649dup MKKS c.1239_1242dup, p.(Thr415*), MKKS(NM_018848.3):c.1242_1243insTGAA (p.(Thr415Ter)) - MKKS_000071 single heterozygous variant (recessive), VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Leiden
+/. 3 5i c.1272+1G>A r.spl? p.? - pathogenic, pathogenic (recessive) g.10388263C>T - c.1272 +1G >A, c.1272+1G>A, c.[1272+1G>A];[1272+1G>A] - MKKS_000098 - PubMed: M'hamdi-2014, PubMed: Mhamdi_2013, PubMed: Redin-2012 - - Germline, Unknown - - - - - LOVD
-?/. 1 - c.1282G>A r.(?) p.(Asp428Asn) - likely benign g.10386326C>T g.10405678C>T MKKS(NM_018848.3):c.1282G>A (p.D428N) - MKKS_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 6 c.1294A>T r.(?) p.(Ile432Phe) - likely benign, VUS g.10386314T>A g.10405666T>A c.1294A>T(h), MKKS(NM_018848.3):c.1294A>T (p.I432F) - MKKS_000075 VKGL data sharing initiative Nederland PubMed: Janssen-2011 - - CLASSIFICATION record, Germline - 0.017 - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 6 c.1356T>C r.(?) p.(Ser452=) - likely benign g.10386252A>G g.10405604A>G MKKS(NM_018848.3):c.1356T>C (p.S452=) - MKKS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.1361T>C r.(?) p.(Leu454Pro) - pathogenic g.10386247A>G - BBS6:p.L454P (c.1361T>C) - MKKS_000110 - PubMed: Pereiro-2010 - - Germline yes 0/100 ethnically matched control chromosomes. - - - LOVD
+/. 1 6 c.1410_1413del r.(?) p.(Asp471Ter) - pathogenic g.10386197_10386200del g.10405549_10405552del - - MKKS_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 6 c.1414A>G r.(?) p.(Met472Val) - likely pathogenic g.10386194T>C - BBS6:M472V - MKKS_000109 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - - - LOVD
+?/. 1 - c.1432T>C r.(?) p.(Trp478Arg) - likely pathogenic g.10386176A>G g.10405528A>G c1432T>C - MKKS_000094 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/., +?/., ?/. 3 6 c.1436C>G r.(?) p.(Ser479*), p.(Ser479Ter) - likely pathogenic, pathogenic, unclassified g.10386172G>C g.10405524G>C c.1436C>G, MKKS(NM_018848.3):c.1436C>G (p.S479*) - MKKS_000029 VKGL data sharing initiative Nederland PubMed: Hichri-2005 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 6 c.1445C>A r.(?) p.(Ala482Glu) - VUS g.10386163G>T g.10405515G>T MKKS(NM_018848.3):c.1445C>A (p.A482E) - MKKS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., -/., ?/. 3 6 c.1462G>A r.(?) p.(Ala488Thr) - benign, likely pathogenic, VUS g.10386146C>T g.10405498C>T MKKS(NM_018848.3):c.1462G>A (p.A488T), [A488T]+[=], [p.D480MfsX3];[p.D480MfsX3] - MKKS_000040 normal 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Billingsley-2010, PubMed: Deveault-2011 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Utrecht
+/. 1 6 c.1474G>A r.(?) p.(Asp492Asn) - pathogenic g.10386134C>T - 147>G>A - MKKS_000108 - PubMed: Fauser-2003 - - Unknown - - - - - LOVD
+/. 1 6 c.1496G>A r.(?) p.(Cys499Tyr) - pathogenic g.10386112C>T - c.1496G>A - MKKS_000124 - PubMed: Xing-2014 - - Germline - - - - - LOVD
+?/. 1 6 c.1496G>C r.(?) p.(Cys499Ser) - likely pathogenic g.10386112C>G - BBS6:C499S - MKKS_000107 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - - - LOVD
-?/. 1 6 c.1526A>G r.(?) p.(Asn509Ser) - likely benign g.10386082T>C g.10405434T>C MKKS(NM_018848.3):c.1526A>G (p.N509S) - MKKS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., -/. 7 6 c.1549C>T r.(?) p.(Arg517Cys) - benign, likely pathogenic, pathogenic (recessive) g.10386059G>A g.10405411G>A c.1595G>T/c.1549C>T, MKKS(NM_018848.3):c.1549C>T (p.R517C), p.Arg517Cys - MKKS_000051 VKGL data sharing initiative Nederland PubMed: Anasagasti-2013, PubMed: Sathya Priya-2015 - rs1547 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/., ?/. 4 6 c.1553G>A r.(?) p.(Arg518His) - benign, likely benign, VUS g.10386055C>T g.10405407C>T MKKS(NM_018848.3):c.1553G>A (p.R518H), NM_018848.3:c.1553G>A - MKKS_000021 VKGL data sharing initiative Nederland PubMed: Tiwari 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/., +?/., -/. 7 6 c.1595G>T r.(?) p.(Gly532Val) - benign, likely pathogenic, pathogenic (recessive) g.10386013C>A g.10405365C>A c.1595G>T/c.1549C>T, MKKS(NM_018848.3):c.1595G>T (p.G532V), p.Gly532Val - MKKS_000050 VKGL data sharing initiative Nederland PubMed: Anasagasti-2013, PubMed: Sathya Priya-2015 - rs1545 CLASSIFICATION record, Germline yes 0.17 - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 6 c.1648C>T r.(?) p.(Gln550*) - pathogenic g.10385960G>A - BBS6:c.1648C>T - MKKS_000106 - PubMed: Muller-2010 - - Germline - - - - - LOVD
-?/. 1 6 c.1689A>G r.(?) p.(Ser563=) - likely benign g.10385919T>C g.10405271T>C MKKS(NM_018848.3):c.1689A>G (p.S563=) - MKKS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query