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.

305 entries on 4 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.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 - 0 - LOVD
+?/. - 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
+/. - 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 ? - - 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: M'hamdi 2014 - - Unknown - - - 0 - LOVD
-?/. - 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
-?/. - 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
?/. _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 - - - 0 - LOVD
?/. 3 c.3G>H r.? p.? - VUS g.10394160C>A - BBS6:p.[M1I];[Y37C] - MKKS_000127 - PubMed: Scheidecker 2015 - - Germline - - - 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.110A>G r.(?) p.(Tyr37Cys) - VUS g.10394053T>C - BBS6:p.[M1I];[Y37C] - MKKS_000005 - PubMed: Scheidecker 2015 - - Germline - - - 0 - LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C g.10413405T>C MKKS 997A->G, Y37C - MKKS_000005 obsolete nucletotide annotation, it should be c.110A>G and not 997A->G; heterozygous PubMed: Stone 2000 - - Germline yes 0/200 chromosomes from the non-Amish control group - 0 - LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C g.10413405T>C MKKS Y37C - MKKS_000005 homozygous PubMed: Katsanis 2000 - - Germline yes 0/188 European or 24 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C g.10413405T>C MKKS Y37C - MKKS_000005 homozygous PubMed: Katsanis 2000 - - Germline yes 0/188 European or 24 Newfoundland unrelated control chromosomes - 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
+?/. - c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic g.10394047G>A g.10413399G>A MKKS c.116C>T, p.(Pro39Leu) - MKKS_000123 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - LOVD
+?/. - c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic g.10394047G>A g.10413399G>A MKKS c.116C>T, p.(Pro39Leu) - MKKS_000123 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 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
-/. - c.117C>T r.(?) p.(=) - benign g.10394046G>A g.10413398G>A - - MKKS_000067 - PubMed: Smaoui 2006 - rs17852626 Germline - 4/19 families BBS - 0 - Johan den Dunnen
+/. 3 c.119C>G r.(?) p.(Ser40*) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 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
+?/. - 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 - 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
+?/. - c.169A>G r.(?) p.(Thr57Ala) - likely pathogenic g.10393994T>C g.10413346T>C MKKS T57A - MKKS_000006 single heterozygous, no second allele found PubMed: Katsanis 2000 - - Germline yes 0/192 European or 24 Newfoundland unrelated control chromosomes - 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
+?/. - c.250C>T r.(?) p.(His84Tyr) - likely pathogenic g.10393913G>A g.10413265G>A MKKS 1137C->T, H84Y - MKKS_000150 obsolete nucletotide annotation, it should be c.250C>T and not 1137C->T; predicted to interfere with ATP hydrolysis; linked in this family to a likely benign p.A242S variant; homozygous PubMed: Stone 2000 - - Germline yes 0/200 chromosomes from the non-Amish control group - 0 - LOVD
+?/. 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.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del - MKKS 1167 delT - MKKS_000149 obsolete nucletotide annotation, it should be c.281del and not 1167 delT; homozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del - MKKS 1167 delT - MKKS_000149 obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del - MKKS 1167 delT - MKKS_000149 obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 heterozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 heterozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 heterozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 homozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 homozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) - likely pathogenic g.10393883del g.10413235del MKKS fs2=280delT (F94fsX103) - MKKS_000149 homozygous PubMed: Katsanis 2000 - - Germline yes 0/168 European or 84 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - 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 - - 0 - LOVD
+?/. - 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 - - 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.295T>C r.(?) p.(Cys99Arg) - likely pathogenic g.10393868A>G g.10413220A>G MKKS c.29ST >C p.(Cys99Arg) - MKKS_000097 homozygous PubMed: Méjécase 2020 - - Unknown ? - - 0 - LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) - pathogenic (recessive) g.10393868A>G - BBS6:c.[295T>C];[492T>A] - MKKS_000097 - PubMed: Mary-2019 - - Germline - - - 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
+?/. - 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 - - 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.416G>A r.(?) p.(Arg139Gln) - likely pathogenic g.10393747C>T g.10413099C>T MKKS/BBS6 c.416G>A, p.Arg139Gln - MKKS_000064 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - 0 - LOVD
-?/. - 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
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA - MKKS 1316delC and 1324-1326delGTA - MKKS_000147 obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes - 0 - LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA - MKKS 1316delC and 1324-1326delGTA - MKKS_000147 obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous PubMed: Slavotinek 2000 - - Germline yes 0/102 Northern European control chromosomes - 0 - LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA g.10413081_10413086delinsAA MKKS fs1=429delCT/433delAG (D143fsX157) - MKKS_000147 heterozygous PubMed: Katsanis 2000 - - Germline yes 0/172 European or 76 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA g.10413081_10413086delinsAA MKKS fs1=429delCT/433delAG (D143fsX157) - MKKS_000147 heterozygous PubMed: Katsanis 2000 - - Germline yes 0/172 European or 76 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA g.10413081_10413086delinsAA MKKS fs1=429delCT/433delAG (D143fsX157) - MKKS_000147 homozygous PubMed: Katsanis 2000 - - Germline yes 0/172 European or 76 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) - likely pathogenic g.10393729_10393734delinsAA g.10413081_10413086delinsAA MKKS fs1=429delCT/433delAG (D143fsX157) - MKKS_000147 homozygous PubMed: Katsanis 2000 - - Germline yes 0/172 European or 76 Newfoundland unrelated control chromosomes - 0 - LOVD
+?/. - 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 - - 0 - LOVD
+?/. - 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 ? - - 0 - LOVD
+?/. 3 c.433delAG r.(?) p.? - likely pathogenic g.10393730delCT - [p.L55P];[p.E274VfsX29] - MKKS_000119 - PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - 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 - - 0 - LOVD
+?/. - c.464G>T r.(?) p.(Arg155Leu) - likely pathogenic g.10393699C>A g.10413051C>A MKKS c.463G->T, p.R155L - MKKS_000145 error in annotation, should be c.464G>T and not c.463G>T; single heterozygous, no second allele found; no alterations in BBS2 PubMed: Slavotinek 2002 - - Germline yes 0/108 ethnically matched control chromosomes - 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
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