Unique variants in the CC2D2A gene

Information The variants shown are described using the NM_001080522.2 transcript reference sequence.

264 entries on 3 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.3522_3523_insTG r.(?) p.(His1175CysfsTer13) - VUS g.15572047_15572048insTG g.15570424_15570425insTG WDPCP c.3522_3523_insTG - CC2D2A_000016 no protein annotation, extrapolated from nucleotide and databases; heterozygous PubMed: Kim 2010 - - Unknown ? - - - - LOVD
?/. 1 - c.? r.(?) p.(Arg1218*) - VUS g.? - MKS6/JBTS9:p.Arg1218* - TRAPPC11_000000 - PubMed: Knopp 2015 - - Germline - - - - - LOVD
+?/. 1 - c.1A>G r.(?) p.(Met1?) - likely pathogenic g.15477557A>G g.15475933A>G CC2D2A(NM_001080522.2):c.1A>G (p.M1?) - CC2D2A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.123+423A>G r.(=) p.(=) - likely benign g.15480853A>G - CC2D2A(NM_020785.2):c.130A>G (p.(Thr44Ala)) - CC2D2A_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.123+446G>A r.(=) p.(=) - pathogenic g.15480876G>A g.15479252G>A CC2D2A(NM_020785.2):c.153G>A (p.W51*) - CC2D2A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.124-6C>T r.(=) p.(=) - benign g.15482322C>T g.15480698C>T CC2D2A(NM_001080522.2):c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 3 - c.156C>T r.(?) p.(Ser52=) - benign g.15482360C>T g.15480736C>T CC2D2A(NM_001080522.2):c.156C>T (p.S52=), CC2D2A(NM_020785.2):c.262C>T (p.R88*) - CC2D2A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.217C>T r.(?) p.(Leu73=) - VUS g.15482421C>T g.15480797C>T CC2D2A(NM_020785.2):c.323C>T (p.P108L) - CC2D2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.247+374G>C r.(=) p.(=) - VUS g.15482825G>C g.15481201G>C CC2D2A(NM_020785.2):c.358G>C (p.A120P) - CC2D2A_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.247+379T>C r.(=) p.(=) - VUS g.15482830T>C g.15481206T>C CC2D2A(NM_001164720.1):c.257T>C (p.V86A) - CC2D2A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.247+395G>A r.(=) p.(=) - likely benign g.15482846G>A - CC2D2A(NM_001164720.1):c.273G>A (p.L91=) - CC2D2A_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.247+409C>T r.(=) p.(=) - likely benign g.15482860C>T g.15481236C>T 1 more item - CC2D2A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.247+410G>A r.(=) p.(=) - benign, likely benign g.15482861G>A g.15481237G>A CC2D2A(NM_001164720.2):c.288G>A (p.T96=), CC2D2A(NM_001164720.3):c.288G>A (p.T96=) - CC2D2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.247+419C>T r.(=) p.(=) - likely benign g.15482870C>T g.15481246C>T CC2D2A(NM_001164720.1):c.297C>T (p.H99=) - CC2D2A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 4 - c.247+452C>T r.(=) p.(=) - likely benign, VUS g.15482903C>T g.15481279C>T 1 more item - CC2D2A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.247+453G>A r.(=) p.(=) - benign g.15482904G>A g.15481280G>A CC2D2A(NM_001164720.1):c.331G>A (p.(Gly111Arg)), CC2D2A(NM_020785.2):c.*68G>A - CC2D2A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 1 - c.247+553G>A r.(=) p.(=) - benign g.15483004G>A g.15481380G>A CC2D2A(NM_020785.2):c.*168G>A - CC2D2A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.247+751C>T r.(=) p.(=) - likely benign g.15483202C>T g.15481578C>T CC2D2A(NM_020785.2):c.*366C>T - CC2D2A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.248-32del r.(=) p.(=) - benign g.15504020del g.15502397del CC2D2A(NM_001080522.2):c.248-32delT - CC2D2A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.248-15G>A r.(=) p.(=) - likely benign g.15504037G>A - CC2D2A(NM_001080522.2):c.248-15G>A - CC2D2A_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 2 5i c.248-4_248-3insAAGTTTT r.spl? p.(?), p.? - likely pathogenic, pathogenic g.15504048_15504049insAAGTTTT g.15502425_15502426insAAGTTTT c.248-4_248-3insAAGTTTT - CC2D2A_000225 - PubMed: Brooks 2018, PubMed: Summers 2017 - - Germline ? - - - - LOVD
?/. 1 - c.280G>C r.(?) p.(Gly94Arg) - VUS g.15504084G>C g.15502461G>C CC2D2A(NM_001080522.2):c.280G>C (p.G94R) - CC2D2A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.287C>G r.(?) p.(Ala96Gly) - likely benign g.15504091C>G g.15502468C>G CC2D2A(NM_001080522.2):c.287C>G (p.A96G) - CC2D2A_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.332C>T r.(?) p.(Ala111Val) - VUS g.15504136C>T g.15502513C>T - - CC2D2A_000191 - PubMed: Sun 2015 - rs137878385 Germline - 2/624 control chromosomes, 3/596 chromosomes - - - LOVD
+?/. 1 - c.336+1G>T r.spl? p.? - likely pathogenic g.15504141G>T g.15502518G>T CC2D2A(NM_001080522.2):c.336+1G>T - CC2D2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 4 - c.351T>G r.(?) p.(Ser117Arg) - likely benign, VUS g.15504459T>G g.15502836T>G CC2D2A(NM_001080522.2):c.351T>G (p.S117R) - CC2D2A_000045 conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs186264635 CLASSIFICATION record, Germline - 8/2780 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
-/., -?/. 3 - c.355T>C r.(?) p.(Leu119=) - benign, likely benign g.15504463T>C g.15502840T>C CC2D2A(NM_001080522.2):c.355T>C (p.L119=) - CC2D2A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.369C>A r.(?) p.(Ile123=) - likely benign g.15504477C>A - CC2D2A(NM_001080522.2):c.369C>A (p.I123=) - CC2D2A_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.394C>T r.(?) p.(Arg132*) - pathogenic g.15504502C>T - CC2D2A(NM_001378615.1):c.394C>T (p.(Arg132*)) - CC2D2A_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 7 c.418_419ins[(6000_62000);GAAAGAATTGG] r.? p.? - pathogenic (recessive) g.15504526_15504527ins[(6000_62000);GAAAGAATTGG] g.15502903_15502904ins[(6000_62000);GAAAGAATTGG] - - CC2D2A_000235 L1 insertion 0.99 similarity to L1HS PubMed: Takenouchi 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.432C>G r.(?) p.(Gly144=) - benign g.15504540C>G g.15502917C>G CC2D2A(NM_001080522.2):c.432C>G (p.G144=) - CC2D2A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.438+1G>T r.337_438del p.Ser113_Glu146del - VUS g.15504547G>T g.15502924G>T - - CC2D2A_000255 - PubMed: Bournazos 2022 - - De novo - - - - - Johan den Dunnen
-?/., ?/. 2 - c.501G>T r.(?) p.(Lys167Asn) - likely benign, VUS g.15511824G>T g.15510201G>T CC2D2A(NM_001080522.2):c.501G>T (p.K167N) - CC2D2A_000170 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs190694237 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/+, +/. 3 8 c.517C>T r.(517c>u), r.(?) p.(Arg173*) - pathogenic, pathogenic (recessive) g.15511840C>T g.15510217C>T c.517C/T - CC2D2A_000003 1 Mauritanian MKS6 family (hom) PubMed: Mougou-Zerelli 2009, PubMed: Otto 2011 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-/. 1 - c.541-25G>T r.(=) p.(=) - benign g.15512845G>T g.15511222G>T CC2D2A(NM_001080522.2):c.541-25G>T - CC2D2A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.541-20T>G r.(=) p.(=) - likely benign g.15512850T>G g.15511227T>G CC2D2A(NM_001080522.2):c.541-20T>G - CC2D2A_000048 20 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs114335547 CLASSIFICATION record, Germline - 20/2794 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, Mohammed Faruq
-?/. 2 - c.541-5G>A r.spl? p.? - likely benign g.15512865G>A g.15511242G>A CC2D2A(NM_001080522.2):c.541-5G>A (p.?) - CC2D2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.563C>T r.(?) p.(Ala188Val) - likely benign g.15512892C>T - CC2D2A(NM_001080522.2):c.563C>T (p.(Ala188Val)) - CC2D2A_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.566A>G r.(?) p.(Glu189Gly) - VUS g.15512895A>G - CC2D2A(NM_001080522.2):c.566A>G (p.(Glu189Gly)) - CC2D2A_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.590T>C r.(?) p.(Phe197Ser) - VUS g.15512919T>C g.15511296T>C CC2D2A(NM_001080522.2):c.590T>C (p.F197S) - CC2D2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.650del r.(?) p.(Gly217Glufs*41) ACMG likely pathogenic g.15512979del g.15511356del - - CC2D2A_000031 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+?/+?, -/., -?/., ?/. 9 11, 9 c.685_687del r.(?) p.(Glu229del) - benign, likely benign, likely pathogenic, VUS g.15513014_15513016del g.15511391_15511393del 685_7delGAA (E229del), CC2D2A(NM_001080522.2):c.685_687delGAA (p.E229del) - CC2D2A_000002, CC2D2A_000024, CC2D2A_000051 1 British MKS6 family (com-het), no genotypes reported, VKGL data sharing initiative Nederland PubMed: Neveling 2012, PubMed: Otto et al. 2011, PubMed: Sergouniotis 2016 - rs386833764 CLASSIFICATION record, Germline, SUMMARY record yes 21/486 individuals - - - Anne Polvi, Kornelia Neveling, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 9 c.685_687delGAA r.(?) p.(Glu229del) - pathogenic g.15513014_15513016delGAA - c.685_7delGAA - CC2D2A_000226 - PubMed: Otto 2011 - - Germline - - - - - LOVD
+/. 3 - c.712G>T r.(?) p.(Glu238Ter) - pathogenic g.15513041G>T g.15511418G>T CC2D2A(NM_001080522.2):c.712G>T (p.E238*, p.(Glu238*)) - CC2D2A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.721G>A r.(?) p.(Glu241Lys) - benign g.15516333G>A - CC2D2A(NM_001080522.2):c.721G>A (p.E241K) - CC2D2A_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.745G>A r.(?) p.(Asp249Asn) - VUS g.15516357G>A g.15514734G>A - - CC2D2A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.762A>G r.(?) p.(Leu254=) - benign, likely benign g.15516374A>G g.15514751A>G CC2D2A(NM_001080522.2):c.762A>G (p.L254=) - CC2D2A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 3 - c.777C>T r.(=), r.(?) p.(=), p.(His259=) - benign, likely benign g.15516389C>T g.15514766C>T CC2D2A(NM_001080522.2):c.777C>T (p.H259=) - CC2D2A_000054 177 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs2286976 CLASSIFICATION record, Germline - 177/2794 individuals, 6/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.786C>A r.(?) p.(Asp262Glu) - likely benign g.15516398C>A g.15514775C>A CC2D2A(NM_001080522.2):c.786C>A (p.D262E) - CC2D2A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.832C>T r.(?) p.(Arg278Trp) - likely benign g.15516444C>T g.15514821C>T CC2D2A(NM_001080522.2):c.832C>T (p.R278W) - CC2D2A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 10, 12 c.834del r.(?) p.(Leu279Cysfs*40) - pathogenic, pathogenic (recessive) g.15516446del g.15514823del 834delG, Leu279CysfsX40 - CC2D2A_000004, CC2D2A_000125 1 American MKS6 family (het), no variant 2nd chromosome PubMed: Mougou-Zerelli 2009, PubMed: Mougou-Zerelli et al. 2009 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.835C>T r.(?) p.(Leu279=) - likely benign g.15516447C>T - CC2D2A(NM_001080522.2):c.835C>T (p.L279=) - CC2D2A_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.880+3dup r.spl? p.? - likely benign g.15516495dup g.15514872dup CC2D2A(NM_001080522.2):c.880+3dup (p.?), CC2D2A(NM_001080522.2):c.880+3dupA - CC2D2A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 3 - c.922T>C r.(?) p.(Phe308Leu) - likely benign g.15517532T>C g.15515909T>C CC2D2A(NM_001080522.2):c.922T>C (p.F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/., ?/. 3 10 c.934G>A r.(?) p.(Glu312Lys) ACMG likely pathogenic (recessive), VUS g.15517544G>A g.15515921G>A c.934G>A:p.(Glu312Lys) - CC2D2A_000162 compound heterozygous PubMed: Surl 2020 - - Germline, Germline/De novo (untested) ? - - - - Jinu Han
+/. 1 - c.945C>A r.(?) p.(Tyr315Ter) - pathogenic g.15517555C>A g.15515932C>A CC2D2A(NM_001080522.2):c.945C>A (p.Y315*) - CC2D2A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.949G>A r.(?) p.(Gly317Arg) - VUS g.15517559G>A g.15515936G>A - - CC2D2A_000221 - PubMed: Kroes 2016 - - Germline - - - - - LOVD
?/. 1 - c.967G>A r.(?) p.(Ala323Thr) - VUS g.15517577G>A - CC2D2A(NM_001378615.1):c.967G>A (p.(Ala323Thr)) - CC2D2A_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.974C>T r.(?) p.(Thr325Ile) - VUS g.15517584C>T - CC2D2A(NM_001080522.2):c.974C>T (p.T325I) - CC2D2A_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 6 11i c.1017+1G>A r.(?), r.spl? p.(?), p.? - likely pathogenic, pathogenic, pathogenic (recessive) g.15517628G>A g.15516005G>A c.1017+1G>A, CC2D2A(NM_001080522.2):c.1017+1G>A, NM_001080522.2:c.1017+1G>A - CC2D2A_000165 VKGL data sharing initiative Nederland PubMed: Bachmann-Gagescu 2015, PubMed: Brooks 2018, PubMed: Nishiguchi-2012, PubMed: Summers 2017 - - CLASSIFICATION record, Germline, Unknown ? - - - - VKGL-NL_Rotterdam
+/. 1 - c.1017+1G>C r.spl? p.? - pathogenic g.15517628G>C g.15516005G>C - - CC2D2A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1017+10C>T r.(=) p.(=) - likely benign g.15517637C>T - CC2D2A(NM_001378615.1):c.1017+10C>T - CC2D2A_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1041C>T r.(?) p.(Asp347=) - benign g.15518271C>T g.15516648C>T CC2D2A(NM_001080522.2):c.1041C>T (p.D347=) - CC2D2A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1127A>C r.(?) p.(Glu376Ala) - benign g.15518357A>C g.15516734A>C CC2D2A(NM_001080522.2):c.1127A>C (p.E376A) - CC2D2A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1150-13C>G r.(=) p.(=) - benign g.15529057C>G g.15527434C>G CC2D2A(NM_001080522.2):c.1150-13C>G - CC2D2A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1162G>A r.(?) p.(Val388Ile) - likely benign g.15529082G>A g.15527459G>A CC2D2A(NM_001080522.2):c.1162G>A (p.V388I) - CC2D2A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1231T>G r.(?) p.(Ser411Ala) - likely benign g.15529151T>G g.15527528T>G - - CC2D2A_000263 - PubMed: Chia 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1247C>T r.(?) p.(Thr416Ile) - VUS g.15529167C>T - CC2D2A(NM_001080522.2):c.1247C>T (p.T416I) - CC2D2A_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1256C>T r.(?) p.(Pro419Leu) - VUS g.15529176C>T - CC2D2A(NM_001080522.2):c.1256C>T (p.P419L) - CC2D2A_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.1263_1264insGGCATGTTTTGGCAGCGA r.(?) p.(Phe421_Ser422insGlyMetPheTrpGlnArg) - pathogenic g.15529183_15529184insGGCATGTTTTGGCAGCGA g.15527560_15527561insGGCATGTTTTGGCAGCGA NM_001080522.2:c.1263_1264insGGCATGTTTTGGCAGCGA - CC2D2A_000198 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. 2 - c.1267C>T r.(?) p.(Arg423Ter) - pathogenic g.15529187C>T g.15527564C>T CC2D2A(NM_001080522.2):c.1267C>T (p.R423*) - CC2D2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 2 13 c.1339del r.(1339del), r.(?) p.(Ala447Argfs*11) - pathogenic (recessive) g.15529259del g.15527636del 1339delG - CC2D2A_000005 1 MKS6 family with undetermined ethnicity (het), no variant 2nd chromosome PubMed: Mougou-Zerelli 2009 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.1359+6T>C r.(=) p.(=) - likely benign g.15529285T>C g.15527662T>C CC2D2A(NM_001080522.2):c.1359+6T>C - CC2D2A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1360-29C>G r.1360_1466del p.Leu454ThrfsTer7 ACMG pathogenic g.15530214C>G g.15528591C>G - - CC2D2A_000270 ACMG PVS1, PM2, PS3, PM3 PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Fulvio D'Abrusco
+/. 1 - c.1370T>A r.(?) p.(Leu457*) - pathogenic g.15530253T>A - CC2D2A(NM_001080522.2):c.1370T>A (p.L457*) - CC2D2A_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1392C>G r.(?) p.(Gly464=) - benign g.15530275C>G g.15528652C>G CC2D2A(NM_001080522.2):c.1392C>G (p.G464=) - CC2D2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.1451A>G r.(?) p.(Tyr484Cys) - VUS g.15530334A>G g.15528711A>G CC2D2A(NM_001080522.2):c.1451A>G (p.(Tyr484Cys)) - CC2D2A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.1483C>T r.(?) p.(Arg495Cys) - VUS g.15534832C>T - CC2D2A(NM_001080522.2):c.1483C>T (p.R495C) - CC2D2A_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 15 c.1484G>A r.(?) p.(Arg495His) - likely benign, VUS g.15534833G>A g.15533210G>A CC2D2A(NM_001080522.2):c.1484G>A (p.R495H) - CC2D2A_000138 VKGL data sharing initiative Nederland PubMed: Ganapathy 2019 ClinVar-RCV000478789 rs373906628 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 - c.1503_1505del r.(?) p.(Lys501_Asp502delinsAsn) - pathogenic g.15534852_15534854del g.15533229_15533231del NM_001080522.2:c.1503_1505delAGA - CC2D2A_000199 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/., -/., -?/., ?/. 8 15 c.1519A>G r.(?) p.(Lys507Glu) - benign, likely benign, pathogenic, VUS g.15534868A>G g.15533245A>G c.1519A/G, CC2D2A(NM_001080522.2):c.1519A>G (p.K507E, p.(Lys507Glu)) - CC2D2A_000063 16 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Otto 2011 - rs144439937 CLASSIFICATION record, Germline - 16/2792 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
+/., +?/+? 2 15, 17 c.1538G>A r.(1538g>a), r.(?) p.(Trp513*) - pathogenic (recessive) g.15534887G>A g.15533263T>A, g.15533264G>A 1538T>A, c.1538T>A (Trp513X) - CC2D2A_000006 1 more item PubMed: Mougou-Zerelli 2009 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+?/. 1 - c.1558C>T r.(?) p.(Arg520*) - likely pathogenic g.15534907C>T g.15533284C>T NM_001080522.2:c.1558C>T - CC2D2A_000200 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
?/. 1 15 c.1598T>C r.(?) p.(Val533Ala) - VUS g.15534947T>C g.15533324T>C - - CC2D2A_000222 - - ClinVar-RCV000299384 rs777351655 Germline - - - - - LOVD
?/. 1 - c.1645G>A r.(?) p.(Glu549Lys) - VUS g.15538580G>A - CC2D2A(NM_001080522.2):c.1645G>A (p.(Glu549Lys)) - CC2D2A_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1666del r.(?) p.(Ile556*) - pathogenic g.15538601del - CC2D2A(NM_001080522.2):c.1666delA (p.I556*) - CC2D2A_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 16 c.1676T>C r.(?) p.(Leu559Pro) - pathogenic g.15538611T>C g.15536988T>C c.1676T/C, NM_001080522.2:c.1676T>C - CC2D2A_000201 - PubMed: Bachmann-Gagescu 2015, PubMed: Otto 2011 - - Germline - - - - - LOVD
?/. 1 - c.1691C>T r.(?) p.(Thr564Met) - VUS g.15538626C>T - - - CC2D2A_000186 - Doucette 2021, Submitted ClinVar-291191 rs201954181 Germline no - - - - Lance P Doucette
-?/. 1 - c.1722C>T r.(?) p.(Tyr574=) - likely benign g.15538657C>T g.15537034C>T CC2D2A(NM_001080522.2):c.1722C>T (p.Y574=) - CC2D2A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 13 16, 18 c.1762C>T r.(1761_1764del), r.(?), r.1761_1764del p.(Gln588GlyTer29), p.(Gln588Ter), p.Gln588Glyfs*29, p.Gln588GlyTer29 - pathogenic, pathogenic (recessive) g.15538697C>T g.15537074C>T - - CC2D2A_000007 variant creates new donor splice site; second most common Finnish MKS variant, 1 more item PubMed: Tallila 2008 - rs116358011 CLASSIFICATION record, Germline, SUMMARY record - 3/575 FIN (het) - - - Johan den Dunnen, Anne Polvi, VKGL-NL_Nijmegen
?/. 1 - c.1765-8C>G r.(=) p.(=) - VUS g.15539514C>G g.15537891C>G CC2D2A(NM_001080522.2):c.1765-8C>G - CC2D2A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1766G>A r.(?) p.(Arg589Lys) - likely benign g.15539523G>A g.15537900G>A CC2D2A(NM_001080522.2):c.1766G>A (p.R589K) - CC2D2A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1797A>G r.(?) p.(Ala599=) - likely benign g.15539554A>G - CC2D2A(NM_001080522.2):c.1797A>G (p.A599=) - CC2D2A_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1799A>C r.(?) p.(Glu600Ala) - VUS g.15539556A>C g.15537933A>C CC2D2A(NM_001080522.2):c.1799A>C (p.(Glu600Ala)) - CC2D2A_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 17 c.1810G>A r.(?) p.(Gly604Ser) - likely pathogenic g.15539567G>A g.15537944G>A - - CC2D2A_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
-/., -?/. 2 - c.1821T>C r.(?) p.(Ile607=) - benign, likely benign g.15539578T>C g.15537955T>C CC2D2A(NM_001080522.2):c.1821T>C (p.I607=) - CC2D2A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.1830G>A r.(?) p.(Pro610=) - likely benign g.15539587G>A - CC2D2A(NM_001080522.2):c.1830G>A (p.P610=) - CC2D2A_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.1837G>A r.(?) p.(Glu613Lys) - likely benign g.15539594G>A g.15537971G>A CC2D2A(NM_001080522.2):c.1837G>A (p.E613K) - CC2D2A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.1881G>A r.(?) p.(Arg627=) - benign, likely benign g.15539638G>A g.15538015G>A CC2D2A(NM_001080522.2):c.1881G>A (p.R627=) - CC2D2A_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1889T>G r.(?) p.(Ile630Arg) - VUS g.15539646T>G g.15538023T>G CC2D2A(NM_001080522.2):c.1889T>G (p.I630R) - CC2D2A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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