Full data view for gene MKKS

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     

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.53>C>T r.(?) p.(Ile178=) Unknown - 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 - DNA RFLP blood - obesity ? PubMed: Rouskas 2008 association study; 220 obese subjects, 330 non-obese controls M;F - - - - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic (recessive) g.? - BBS6:C499S - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Katsanis-2001 - - - - - - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic (recessive) g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Katsanis-2001 two BBS2 mutations found in unaffected individuals - - - - - 0 - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - 0 - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Eichers-2009, Beales 2003 - - - - - - 0 - - 1 LOVD
+/. - c.? r.(?) p.F94SfsX9 Both (homozygous) - pathogenic g.? - [F94SfsX9]+[F94SfsX9] - DNMT3B_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Newfoundland - 0 - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #2 - likely pathogenic g.? - [p.T501M];[p.R525H] - DNMT3B_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - Ghanian - 0 - - 1 LOVD
+/. - c.-7485893_*1185894del r.0? p.0? Unknown - pathogenic g.9200001_17900000del g.9200001_17900000del JAG1 del20p12.1-p12.2, - JAG1_000783 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective analysis retinal disease AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - 0 - - 1 LOVD
?/. 1 c.-3436C>T r.(?) p.? Unknown - VUS g.10417543G>A - BBS6: c.-3436C>T - MKKS_000099 - PubMed: M'hamdi-2014 - - Germline - - - 0 - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.10417543G>A - c.-3436C >T - MKKS_000099 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - 0 - - 1 LOVD
-?/. - c.-649+2430T>G r.(=) p.(=) Unknown - likely benign g.10412326A>C - MKKS(NM_018848.3):c.-649+6T>G - MKKS_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-417-13dup r.(=) p.(=) Unknown - likely benign g.10394599dup - MKKS(NM_018848.3):c.-417-13dupT - MKKS_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _3_6_ c.(?_-417-1)_*467{0} r.0 p.0 Unknown - VUS g.(?_2639084)_(10394167_?)del - chr20:2639084-10394167 - MKKS_000000 - PubMed: Ellingsford 2018 - - Germline - - - 0 - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 13009597 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - 0 - - 1 LOVD
?/. 3 c.3G>H r.? p.? Unknown - VUS g.10394160C>A - BBS6:p.[M1I];[Y37C] - MKKS_000127 - PubMed: Scheidecker 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - 0 - - 1 LOVD
-/. 3 c.16G>A r.(?) p.(Ala6Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.16G>A r.(?) p.(Ala6Thr) Unknown - benign g.10394147C>T - MKKS(NM_018848.3):c.16G>A (p.A6T) - MKKS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Glu20Gly) Unknown - VUS g.10394104T>C - MKKS(NM_018848.3):c.59A>G (p.E20G) - MKKS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 3 c.67A>G r.(?) p.(Arg23Gly) Both (homozygous) - likely benign g.10394096T>C g.10413448T>C c.67T>C / g.10394096A>G - MKKS_000048 - Journal: Lim 2014 - - Germline no - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.67A>G r.(?) p.(Arg23Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.67A>G r.(?) p.(Arg23Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.110A>G r.(?) p.(Tyr37Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110A>G r.(?) p.(Tyr37Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110A>G r.(?) p.(Tyr37Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - likely pathogenic g.10394053T>C g.10413405T>C - - MKKS_000005 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 619 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - likely pathogenic (recessive) g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Katsanis-2001 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Katsanis-2001 - - - - - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - DNA SEQ blood ASPER microarray retinal disease - PubMed: Muller-2010, Stone 2000 - - - - white - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Parent #1 - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - DNA DHPLC, SEQ blood - retinal disease - PubMed: Muller-2010, Stone 2000 - - - - white - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - likely pathogenic g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Eichers-2009, Katsanis 2002 - - Germline - - - 0 - DNA ? - - retinal disease - PubMed: Eichers-2009, Katsanis 2002 - - - - - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - likely pathogenic g.10394053T>C - c.110A>G - MKKS_000005 - PubMed: Schaefer-2011 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Schaefer-2011 - - - France french - 0 - - 1 LOVD
?/. 3 c.110A>G r.(?) p.(Tyr37Cys) Unknown - VUS g.10394053T>C - BBS6:p.[M1I];[Y37C] - MKKS_000005 - PubMed: Scheidecker 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - 0 - - 1 LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) Paternal (confirmed) - 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 - DNA SEQ - - MKKS ? PubMed: Stone 2000 - F - United States Northern European - 0 - - 1 LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - 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 - DNA SEQ - - BBS AR237_04 PubMed: Katsanis 2000 family AR237 F - - - - 0 - - 1 LOVD
+?/. - c.110A>G r.(?) p.(Tyr37Cys) Both (homozygous) - 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 - DNA SEQ - - BBS AR237_06 PubMed: Katsanis 2000 family AR237 M - - - - 0 - - 1 LOVD
-?/. 3 c.114C>T r.(?) p.(Gly38=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.116C>T r.(?) p.(Pro39Leu) Both (homozygous) - likely pathogenic g.10394047G>A - c.116C>T p.(P39L) - MKKS_000123 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+?/. - c.116C>T r.(?) p.(Pro39Leu) Both (homozygous) - likely pathogenic g.10394047G>A g.10413399G>A MKKS c.116C>T, p.(Pro39Leu) - MKKS_000123 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG9a PubMed: Aldahmesh 2014 family BBS_DG9, individual a M yes Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.116C>T r.(?) p.(Pro39Leu) Both (homozygous) - likely pathogenic g.10394047G>A g.10413399G>A MKKS c.116C>T, p.(Pro39Leu) - MKKS_000123 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - 0 - DNA arraySNP, SEQ - - BBS BBS_DG9b PubMed: Aldahmesh 2014 family BBS_DG9, individual b M yes Saudi Arabia - - 0 - - 1 LOVD
-/. 3 c.117C>T r.(?) p.(Pro39=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3 c.117C>T r.(?) p.(Pro39=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3 c.117C>T r.(=) p.(=) Unknown - pathogenic g.10394046G>A - BBS6:c.117C>T - MKKS_000067 - PubMed: Hoskins-2003 - - Germline - - - 0 - DNA PCR, SEQ, HD blood - retinal disease - PubMed: Hoskins-2003 - - - - - - 0 - - 1 LOVD
-/. - c.117C>T r.(?) p.(=) Unknown - benign g.10394046G>A g.10413398G>A - - MKKS_000067 - PubMed: Smaoui 2006 - rs17852626 Germline - 4/19 families BBS - 0 - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:III-7 PubMed: Ullah-2017 - F yes Pakistan - - 0 - - 1 LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:IV-3 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+/. 3 c.119C>G r.(?) p.(Ser40*) Both (homozygous) - pathogenic g.10394044G>C - c.119C>G - MKKS_000130 - PubMed: Ullah-2017 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - retinal disease E:IV-4 PubMed: Ullah-2017 - M yes Pakistan - - 0 - - 1 LOVD
+/. 3 c.121G>C r.(?) p.(Gly41Arg) Both (homozygous) - pathogenic g.10394042C>G - [G41R]+[G41R] - MKKS_000122 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - F - - French-Canadian - 0 - - 1 LOVD
+?/. 3 c.121G>C r.(?) p.(Gly41Arg) Parent #2 - likely pathogenic g.10394042C>G - [p.G539D];[p.P632FfsX7] - MKKS_000122 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 - M - - Spanish - 0 - - 1 LOVD
+?/. - c.155G>A r.(?) p.(Gly52Asp) Parent #1 - 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 - DNA SEQ - - BBS - PubMed: Slavotinek 2000 Family 1 F - United States Hispanic - 0 - - 1 LOVD
?/. 3 c.166A>G r.(?) p.(Thr56Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 3 c.169A>G r.(?) p.(Thr57Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.169A>G r.(?) p.(Thr57Ala) Unknown - likely pathogenic g.10393994T>C - BBS6:c.169A>G - MKKS_000006 - PubMed: Muller-2010, Katsanis 2000 - - Germline - - - 0 - DNA ? blood ASPER microarray retinal disease - PubMed: Muller-2010, Katsanis 2000 - - - - white - 0 - - 1 LOVD
+?/. - c.169A>G r.(?) p.(Thr57Ala) Paternal (confirmed) - 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 - DNA SEQ - - BBS AR301 PubMed: Katsanis 2000 single heterozygous M - - - - 0 - - 1 LOVD
-/. 3 c.207C>T r.(?) p.(Val69=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.250C>T r.(?) p.(His84Tyr) Both (homozygous) - 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 - DNA SEQ - - MKKS ? PubMed: Stone 2000 whole family described elsewhere (Stone et al.. 1998) - likely United States Amish - 0 - - 1 LOVD
+?/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (confirmed) - likely pathogenic g.10393894T>C g.10413246T>C - - MKKS_000046 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - DNA SEQ-NG-S - - BBS - - 1 familie, 3 patients M yes Spain Hispanic - 0 - - 1 María González-del Pozo
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - F - Spain spanish - 0 - - 1 LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - 0 - - 1 LOVD
+/. 3 c.269A>G r.(?) p.(Asp90Gly) Maternal (inferred) - pathogenic g.10393894T>C - c.269A>G; p.D90G - MKKS_000046 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS - PubMed: Slavotinek 2000 Family 3 M yes United States Newfoundlandese - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS - PubMed: Slavotinek 2000 Family 4, proband F likely United States Newfoundlandese - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS - PubMed: Slavotinek 2000 Family 4, proband's brother M likely United States Newfoundlandese - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Paternal (inferred) - 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 - DNA SEQ - - BBS NF-B1_03 PubMed: Katsanis 2000 family NF-B1 M - - - - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Paternal (inferred) - 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 - DNA SEQ - - BBS NF-B1_04 PubMed: Katsanis 2000 family NF-B1 M - - - - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Maternal (confirmed) - 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 - DNA SEQ - - BBS NF-B5_07 PubMed: Katsanis 2000 family NF-B5 M - - - - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS NF-B3_04 PubMed: Katsanis 2000 family NF-B3 - probably family 3 from Slavotinek et al., 2002 M - - - - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS NF-B4_04 PubMed: Katsanis 2000 family NF-B4 - probably family 4 from Slavotinek et al., 2002 F - - - - 0 - - 1 LOVD
+?/. - c.281del r.(?) p.(Phe94Serfs*9) Both (homozygous) - 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 - DNA SEQ - - BBS NF-B4_07 PubMed: Katsanis 2000 family NF-B4 - probably family 4 from Slavotinek et al., 2002 M - - - - 0 - - 1 LOVD
+?/. - c.287C>T r.(?) p.(Ala96Val) Both (homozygous) - likely pathogenic g.10393876G>A g.10413228G>A MKKS c.287C>T, p.Ala96Val - MKKS_000155 homozygous PubMed: Ullah 2018 - - Germline yes - - 0 - DNA SEQ-NG, SEQ - - BBS B_V-1 PubMed: Ullah 2018 Family B, individual V-1, brother of V-4 M yes Pakistan - - 0 - - 1 LOVD
+?/. - c.287C>T r.(?) p.(Ala96Val) Both (homozygous) - likely pathogenic g.10393876G>A g.10413228G>A MKKS c.287C>T, p.Ala96Val - MKKS_000155 homozygous PubMed: Ullah 2018 - - Germline yes - - 0 - DNA SEQ-NG, SEQ - - BBS B_V-4 PubMed: Ullah 2018 Family B, individual V-4, sister of V-1 F yes Pakistan - - 0 - - 1 LOVD
+?/. - c.295T>C r.(?) p.(Cys99Arg) Unknown - likely pathogenic g.10393868A>G g.10413220A>G - - MKKS_000097 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 11DG1165 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - pathogenic g.10393868A>G - [C99R]+[C99R] - MKKS_000097 - PubMed: Billingsley-2010 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Billingsley-2010 - M - - Portuguese - 0 - - 1 LOVD
+?/. 3 c.295T>C r.(?) p.(Cys99Arg) Parent #2 - likely pathogenic g.10393868A>G - [c.197+1G>T];[p.L600S] - MKKS_000097 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Deveault-2011 novel M - - Mexican/Norwegian/Danish - 0 - - 1 LOVD
+?/. - c.295T>C r.(?) p.(Cys99Arg) Both (homozygous) - likely pathogenic g.10393868A>G g.10413220A>G MKKS c.29ST >C p.(Cys99Arg) - MKKS_000097 homozygous PubMed: Méjécase 2020 - - Unknown ? - - 0 - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 44 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - 0 - - 1 LOVD
+/. 3 c.295T>C r.(?) p.(Cys99Arg) Parent #1 - pathogenic (recessive) g.10393868A>G - BBS6:c.[295T>C];[492T>A] - MKKS_000097 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 24 gestation weeks F - France - - 0 - - 1 LOVD
-?/. - c.336A>G r.(?) p.(Thr112=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.363A>C r.(?) p.(Lys121Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.380del r.(?) p.(Cys127Serfs*32) Unknown - likely pathogenic g.10393783del - BBS6:c.380delG - MKKS_000121 - PubMed: Feuillan-2011 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Feuillan-2011 - - - - - - 0 - - 1 LOVD
+?/. - c.415C>T r.(?) p.(Arg139*) Unknown - likely pathogenic g.10393748G>A g.10413100G>A BBS6 c.415C>T, p.Arg139X - MKKS_000148 heterozygous PubMed: Putoux 2010 - - Germline yes - - 0 - DNA SEQ blood - BBS 1 PubMed: Putoux 2010 - F - - - - 0 - - 1 LOVD
-?/. 3 c.416G>A r.(?) p.(Arg139Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.416G>A r.(?) p.(Arg139Gln) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+?/. - c.416G>A r.(?) p.(Arg139Gln) Unknown - 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 - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-59 PubMed: Kang 2016 - ? - Korea, South (Republic) - - 0 - - 1 LOVD
-?/. - c.420C>T r.(?) p.(Ile140=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.429delCT r.(?) p.? Unknown - unclassified g.10393734delAG - [p.G119S; p.Y263H] - MKKS_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - South African Black/European/Asian - 0 - - 1 LOVD
?/. 3 c.429_433delinsTT r.(?) p.(Phe144_Ser145delinsCys) Unknown - unclassified g.10393730_10393734delinsAA - c.429delCT433delAG - MKKS_000105 - PubMed: Hichri-2005 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: Hichri-2005 - - - France white - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Both (homozygous) - 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 - DNA STR, SEQ - - BBS - PubMed: Slavotinek 2000 Family 2, proband F - United States Newfoundlandese - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Both (homozygous) - 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 - DNA SEQ - - BBS - PubMed: Slavotinek 2000 Family 2, proband's brother M - United States Newfoundlandese - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Maternal (confirmed) - 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 - DNA SEQ - - BBS NF-B1_03 PubMed: Katsanis 2000 family NF-B1 M - - - - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Maternal (confirmed) - 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 - DNA SEQ - - BBS NF-B1_04 PubMed: Katsanis 2000 family NF-B1 M - - - - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Both (homozygous) - 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 - DNA SEQ - - BBS NF-B13_03 PubMed: Katsanis 2000 family NF-B13 F - - - - 0 - - 1 LOVD
+?/. - c.429_434delinsTT r.(?) p.(Phe144Leufs*14) Both (homozygous) - 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 - DNA SEQ - - BBS NF-B13_04 PubMed: Katsanis 2000 family NF-B13 M - - - - 0 - - 1 LOVD
+?/. - c.431_441delTTAGTAGTACT r.(?) p.(Phe144Serfs*9) Both (homozygous) - likely pathogenic g.10393725_10393735del g.10413077_10413087del MKKS c.431_441delTTAGTAGTACT - MKKS_000146 homozygous PubMed: Slavotinek 2002 - - Germline yes - - 0 - DNA SEQ - - BBS patient 18 PubMed: Slavotinek 2002 - M - - - - 0 - - 1 LOVD
+?/. - c.432_435del r.(?) p.(Phe144Leufs*14) Both (homozygous) 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 - DNA ? - clinical exome sequencing retinal disease RP-1372 PubMed: Perea-Romero 2021 - - - Spain - - 0 - - 1 LOVD
+?/. 3 c.433delAG r.(?) p.? Unknown - likely pathogenic g.10393730delCT - [p.L55P];[p.E274VfsX29] - MKKS_000119 - PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - - - South African Black/European/Asian - 0 - - 1 LOVD
+?/. - c.442C>T r.(?) p.(Gln148*) Unknown - pathogenic (recessive) g.10393721G>A g.10413073G>A MKKS c.442C>T, p.(Gln148*) - MKKS_000001 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - 0 - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease H.II.1 PubMed: Delvallee 2021 - - - France - - 0 - - 1 LOVD
+?/. - c.464G>T r.(?) p.(Arg155Leu) Maternal (confirmed) - 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 - DNA SEQ - - BBS patient 19 PubMed: Slavotinek 2002 - M - - - - 0 - - 1 LOVD
?/. - c.485C>T r.(?) p.(Pro162Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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