Unique variants in gene CC2D2A

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.1A>G likely pathogenic r.? p.? g.15477557A>G - CC2D2A:c.1A>G (M1?) - CC2D2A_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.123+446G>A pathogenic r.(=) p.(=) g.15480876G>A - CC2D2A:c.153G>A (W51*) - CC2D2A_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.124-6C>T benign r.(=) p.(=) g.15482322C>T - CC2D2A:c.124-6C>T, CC2D2A:NM_001080522.2:c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 3 - c.156C>T benign r.(=) p.(=) g.15482360C>T - CC2D2A:c.156C>T (S52=), CC2D2A:NM_001080522.2:c.156C>T (= (Ser52Ser) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.217C>T VUS r.(=) p.(=) g.15482421C>T - CC2D2A:c.323C>T (P108L) - CC2D2A_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.247+379T>C VUS r.(=) p.(=) g.15482830T>C - CC2D2A:c.257T>C (V86A) - CC2D2A_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.247+410G>A benign r.(=) p.(=) g.15482861G>A - CC2D2A:c.288G>A (=) - CC2D2A_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.247+452C>T VUS r.(=) p.(=) g.15482903C>T - CC2D2A:c.330C>T (G110=) - CC2D2A_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.247+453G>A benign r.(=) p.(=) g.15482904G>A - CC2D2A:c.*68G>A - CC2D2A_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.247+553G>A benign r.(=) p.(=) g.15483004G>A - CC2D2A:c.*168G>A - CC2D2A_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.247+751C>T likely benign r.(=) p.(=) g.15483202C>T - CC2D2A:c.*366C>T - CC2D2A_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.248-41del benign r.(=) p.(=) g.15504011del - CC2D2A:c.248-41delT - CC2D2A_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.336+1G>T likely pathogenic r.spl? p.? g.15504141G>T - CC2D2A:c.336+1G>T - CC2D2A_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.351T>G VUS r.(?) p.(Ser117Arg) g.15504459T>G - CC2D2A:c.351T>G (S117R) - CC2D2A_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.355T>C likely benign, benign r.(=) p.(=) g.15504463T>C - CC2D2A:c.355T>C (=) - CC2D2A_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 8 c.517C>T - r.(517c>u) p.(Arg173*) g.15511840C>T g.15510217C>T Arg173X - CC2D2A_000003 1 Mauritanian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.541-25G>T benign r.(=) p.(=) g.15512845G>T - CC2D2A:c.541-25G>T - CC2D2A_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.541-20T>G likely benign r.(=) p.(=) g.15512850T>G - CC2D2A:c.541-20T>G - CC2D2A_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 1 - c.541-5G>A likely benign r.spl? p.? g.15512865G>A - CC2D2A:c.541-5G>A - CC2D2A_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.590T>C VUS r.(?) p.(Phe197Ser) g.15512919T>C - CC2D2A:c.590T>C (F197S) - CC2D2A_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41) g.15512979del g.15511356del - - CC2D2A_000031 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-?/., -/. 2 - c.676_678del likely benign, benign r.(?) p.(Glu229del) g.15513005_15513007del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/., ?/. 6 9 c.685_687del benign, likely benign r.(?) p.(Glu229del) g.15513014_15513016del g.15511391_15511393del CC2D2A:c.685_687delGAA (E229del), CC2D2A:NM_001080522.2:c.685_687del (Glu229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Neveling 2012 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Kornelia Neveling
+?/+? 1 11 c.685_687delGAA - r.(685_687delgaa) p.(Glu229del) g.15513014_15513016delGAA g.15511391_15511393delGAA 685_7delGAA (E229del) - CC2D2A_000024 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.712G>T pathogenic r.(?) p.(Glu238*) g.15513041G>T - CC2D2A:NM_001080522.2:c.712G>T (Glu238*) - CC2D2A_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.719A>T likely benign r.(?) p.(Asp240Val) g.15516331A>T - CC2D2A:NM_001080522.2:c.719A>T - CC2D2A_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.745G>A VUS r.(?) p.(Asp249Asn) g.15516357G>A - CC2D2A:NM_001080522.2:c.745G>A (Asp249Asn) - CC2D2A_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.762A>G benign r.(=) p.(=) g.15516374A>G - CC2D2A:c.762A>G (=) - CC2D2A_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.777C>T benign r.(=) p.(=) g.15516389C>T - CC2D2A:c.777C>T (=) - CC2D2A_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.786C>A likely benign r.(?) p.(Asp262Glu) g.15516398C>A - CC2D2A:c.786C>A (D262E) - CC2D2A_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40) g.15516446delG g.15514823delG Leu279CysfsX40 - CC2D2A_000004 1 American MKS6 family (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.880+1_880+2insA likely benign r.spl? p.? g.15516493_15516494insA - CC2D2A:c.880+3dupA - CC2D2A_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.922T>C likely benign r.(?) p.(Phe308Leu) g.15517532T>C - CC2D2A:c.922T>C (F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.945C>A pathogenic r.(?) p.(Tyr315*) g.15517555C>A - CC2D2A:c.945C>A (Y315*) - CC2D2A_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1127A>C benign r.(?) p.(Glu376Ala) g.15518357A>C - CC2D2A:c.1127A>C (E376A) - CC2D2A_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1150-13C>G benign r.(=) p.(=) g.15529057C>G - CC2D2A:c.1150-13C>G - CC2D2A_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1162G>A likely benign r.(?) p.(Val388Ile) g.15529082G>A - CC2D2A:c.1162G>A (V388I) - CC2D2A_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1267C>T pathogenic r.(?) p.(Arg423*) g.15529187C>T - CC2D2A:c.1267C>T (R423*) - CC2D2A_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11) g.15529259delG g.15527636delG Ala447ArgfsX11 - CC2D2A_000005 1 MKS6 family with undetermined ethnicity (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.1451A>G VUS r.(?) p.(Tyr484Cys) g.15530334A>G - CC2D2A:NM_001080522.2:c.1451A>G (Tyr484Cys) - CC2D2A_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1519A>G benign r.(?) p.(Lys507Glu) g.15534868A>G - CC2D2A:c.1519A>G (K507E) - CC2D2A_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+?/+? 1 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg) g.15534886T>A g.15533263T>A Trp513X - CC2D2A_000006 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.1722C>T likely benign r.(=) p.(=) g.15538657C>T - CC2D2A:c.1722C>T (=) - CC2D2A_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 18 c.1762C>T pathogenic r.1761_1764del, r.(?) p.Gln588Glyfs*29, p.(Gln588*) g.15538697C>T g.15537074C>T CC2D2A:NM_001080522.2:c.1762C>T (Gln588*) - CC2D2A_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Tallila al. 2008 - rs116358011 SUMMARY record, CLASSIFICATION record yes 3/575 FIN (het) - - - Anne Polvi, VKGL-NL_Nijmegen
?/. 1 - c.1765-8C>G VUS r.(=) p.(=) g.15539514C>G - CC2D2A:c.1765-8C>G - CC2D2A_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 17 c.1810G>A - r.(?) p.(Gly604Ser) 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
?/. 1 - c.1889T>G VUS r.(?) p.(Ile630Arg) g.15539646T>G - CC2D2A:c.1889T>G (I630R) - CC2D2A_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1978G>A benign r.(?) p.(Val660Ile) g.15539735G>A - CC2D2A:c.1978G>A (V660I) - CC2D2A_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1984C>T VUS r.(?) p.(Pro662Ser) g.15539741C>T - CC2D2A:c.1984C>T (P662S) - CC2D2A_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2003+19C>T benign r.(=) p.(=) g.15539779C>T - CC2D2A:c.2003+19C>T, CC2D2A:NM_001080522.2:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.2039G>A likely benign r.(?) p.(Arg680His) g.15542495G>A - CC2D2A:c.2039G>A (R680H) - CC2D2A_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2162C>T VUS r.(?) p.(Pro721Leu) g.15542618C>T - CC2D2A:c.2162C>T (P721L) - CC2D2A_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2205T>G likely benign r.(?) p.(Ser735Arg) g.15552470T>G - CC2D2A:NM_001080522.2:c.2205T>G - CC2D2A_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2259C>T likely benign r.(=) p.(=) g.15552524C>T - CC2D2A:c.2259C>T (V753=) - CC2D2A_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2344C>T likely benign r.(?) p.(Pro782Ser) g.15554786C>T - CC2D2A:NM_001080522.2:c.2344C>T - CC2D2A_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2483G>A likely benign r.(?) p.(Arg828Gln) g.15554925G>A - CC2D2A:c.2483G>A (R828Q) - CC2D2A_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 22i c.2486+1G>C - r.spl? p.? g.15554929G>C g.15553306G>C - - CC2D2A_000008 1 French MKS6 family (com-het); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.2728C>T likely pathogenic r.(?) p.(Arg910*) g.15559029C>T - CC2D2A:NM_001080522.2:c.2728C>T (Arg910*) - CC2D2A_000099 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 24 c.2773C>T - r.(2773c>u) p.(Arg925*) g.15559074C>T g.15557451C>T Arg925X - CC2D2A_000009 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 22 c.2803C>T - r.(?) p.(Arg935*) g.15559104C>T g.15557481C>T - - CC2D2A_000030 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
-?/. 1 - c.2813T>C likely benign r.(?) p.(Met938Thr) g.15559114T>C - CC2D2A:NM_001080522.2:c.2813T>C - CC2D2A_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2829+18del benign r.(=) p.(=) g.15559148del - CC2D2A:c.2829+18delA - CC2D2A_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2830-97A>G benign r.(=) p.(=) g.15560691A>G - CC2D2A:c.2830-97A>G - CC2D2A_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2848C>T pathogenic r.(?) p.(Arg950*) g.15560806C>T - CC2D2A:c.2848C>T (R950*) - CC2D2A_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 23 c.2875del - r.(?) p.(Glu959Asnfs*3) g.15560833del g.15559210del - - CC2D2A_000029 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
?/. 1 - c.2885A>G VUS r.(?) p.(Asp962Gly) g.15560843A>G - CC2D2A:c.2885A>G (D962G) - CC2D2A_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2913C>A pathogenic r.(?) p.(Tyr971*) g.15560871C>A - CC2D2A:c.2913C>A (Y971*) - CC2D2A_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2922+4dup benign r.spl? p.? g.15560884dup - CC2D2A:c.2922+5_2922+6insA - CC2D2A_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2922+10dup likely benign r.(=) p.(=) g.15560890dup - CC2D2A:c.2922+9_2922+10insA - CC2D2A_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2923-13T>C likely benign r.(=) p.(=) g.15562141T>C - CC2D2A:c.2923-13T>C - CC2D2A_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3084del pathogenic r.(?) p.(Lys1029Argfs*3) g.15565047del - CC2D2A:NM_001080522.2:c.3084del (Lys1029fs) - CC2D2A_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3) g.15565047delG g.15563424delG Lys1029fs - CC2D2A_000010 1 European MKS6 family (com-het) and 1 Turkish MKS6 family (hom) PubMed: Tallila al. 2009, PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly) g.15565108C>G g.15563485C>G Arg1049X - CC2D2A_000011 1 Guadeloupean MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.3157A>G VUS r.(?) p.(Ile1053Val) g.15565120A>G - CC2D2A:c.3157A>G (I1053V) - CC2D2A_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3183-8T>C benign r.(=) p.(=) g.15568992T>C - CC2D2A:NM_001080522.2:c.3183-8T>C (?) - CC2D2A_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.3201G>A benign r.(=) p.(=) g.15569018G>A - CC2D2A:NM_001080522.2:c.3201G>A (=), CC2D2A:c.3201G>A (=) - CC2D2A_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.3280C>G benign r.(?) p.(Leu1094Val) g.15569097C>G - CC2D2A:c.3280C>G (L1094V) - CC2D2A_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3288G>C VUS r.(?) p.(Gln1096His) g.15569105G>C - CC2D2A:NM_001080522.2:c.3288G>C (Gln1096His) - CC2D2A_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3288+2del pathogenic r.spl? p.? g.15569107del - CC2D2A:c.3288+2delG - CC2D2A_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 26i c.3289-1delG - r.spl p.? g.15569299delG g.15567676delG - - CC2D2A_000026 - - - - Unknown ? - - - - Sanne Savelberg
+/+ 1 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?] g.15569300delG g.15567677delG Val1097fs - CC2D2A_000012 first nt exon 29; 2 European MKS6 families (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.3325C>T pathogenic r.(?) p.(Arg1109*) g.15569336C>T - CC2D2A:c.3325C>T (R1109*) - CC2D2A_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 29 c.3341C>T - r.(3341c>u) p.(Thr1114Met) g.15569352C>T g.15567729C>T - - CC2D2A_000013 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.3364C>T likely pathogenic r.(?) p.(Pro1122Ser) g.15569375C>T - CC2D2A:NM_001080522.2:c.3364C>T (Pro1122Ser) - CC2D2A_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 29i c.3399-3C>A - r.spl? p.? g.15570913C>A g.15569290C>A - - CC2D2A_000014 1 French MKS6 family (hom); potential missplicing PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 27i_31i c.(3398+1_3399-1)_(3975+1_3976-1)del - r.(del) p.? g.(15569410_15570915)_(15581795_15587779)del - deletion ex28-31 - CC2D2A_000015 1 Algerian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.3509G>A benign r.(?) p.(Arg1170Lys) g.15572034G>A - CC2D2A:c.3509G>A (R1170K) - CC2D2A_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 31 c.3522_3523insTG - r.(3522_3523insug) p.(His1175Cysfs*13) g.15572047_15572048insTG g.15570424_15570425insTG His1175CysfsX13 - CC2D2A_000016 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 31 c.3544T>C - r.(3544u>c) p.(Trp1182Arg) g.15572069T>C g.15570446T>C W1182R - CC2D2A_000022 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes 33/4111 CON het - - - Anne Polvi
?/. 1 - c.3566C>T VUS r.(?) p.(Pro1189Leu) g.15572091C>T - CC2D2A:NM_001080522.2:c.3566C>T (Pro1189Leu) - CC2D2A_000106 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 31 c.3584delT - r.(3584delu) p.(Phe1195Serfs*11) g.15572109delT g.15570486delT Phe1195SerfsX11 - CC2D2A_000017 1 Turkish MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.3597T>C likely benign r.(=) p.(=) g.15575775T>C - CC2D2A:NM_001080522.2:c.3597T>C - CC2D2A_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.3667G>T pathogenic r.(?) p.(Glu1223*) g.15575845G>T - CC2D2A:NM_001080522.2:c.3667G>T (Glu1223*) - CC2D2A_000107 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3741_3742insTGGT pathogenic r.(?) p.(Leu1248Trpfs*13) g.15575919_15575920insTGGT - CC2D2A:c.3744_3747dupGGTT (P1250Gfs*11) - CC2D2A_000120 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3771G>A VUS r.(=) p.(=) g.15575949G>A - CC2D2A:NM_001080522.2:c.3771G>A (= (r.spl?) - CC2D2A_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3771+1G>C pathogenic r.spl? p.? g.15575950G>C - CC2D2A:c.3771+1G>C - CC2D2A_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 31 c.3774dup - r.(?) p.(Glu1259*) g.15581593dup g.15579970dupT - - CC2D2A_000023 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
+/+ 1 33 c.3774dupT - r.(3774dupu) p.(Glu1259*) g.15581593dup g.15579970dupT 3774_5insT (E1259fsX1) - CC2D2A_000023 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes 5/500 CON (het) - - - Anne Polvi
-?/. 1 - c.3800T>G likely benign r.(?) p.(Leu1267Arg) g.15581619T>G - CC2D2A:NM_001080522.2:c.3800T>G - CC2D2A_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 33 c.3893T>A - r.(3893u>a) p.(Val1298Asp) g.15581712T>A g.15580089T>A V1298D - CC2D2A_000025 1 British MKS6 family (com-het) PubMed: Otto et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
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