Full data view for gene CC2D2A

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.1A>G likely pathogenic r.? p.? Unknown g.15477557A>G - CC2D2A:c.1A>G (M1?) - CC2D2A_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.123+446G>A pathogenic r.(=) p.(=) Unknown g.15480876G>A - CC2D2A:c.153G>A (W51*) - CC2D2A_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.124-6C>T benign r.(=) p.(=) Unknown g.15482322C>T - CC2D2A:c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.124-6C>T benign r.(=) p.(=) Unknown g.15482322C>T - CC2D2A:NM_001080522.2:c.124-6C>T - CC2D2A_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T benign r.(=) p.(=) Unknown g.15482360C>T - CC2D2A:c.156C>T (S52=) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T benign r.(=) p.(=) Unknown g.15482360C>T - CC2D2A:c.156C>T (S52=) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T benign r.(=) p.(=) Unknown g.15482360C>T - CC2D2A:NM_001080522.2:c.156C>T (= (Ser52Ser) - CC2D2A_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.217C>T VUS r.(=) p.(=) Unknown g.15482421C>T - CC2D2A:c.323C>T (P108L) - CC2D2A_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.247+379T>C VUS r.(=) p.(=) Unknown g.15482830T>C - CC2D2A:c.257T>C (V86A) - CC2D2A_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.247+410G>A benign r.(=) p.(=) Unknown g.15482861G>A - CC2D2A:c.288G>A (=) - CC2D2A_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.247+452C>T VUS r.(=) p.(=) Unknown g.15482903C>T - CC2D2A:c.330C>T (G110=) - CC2D2A_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.247+453G>A benign r.(=) p.(=) Unknown g.15482904G>A - CC2D2A:c.*68G>A - CC2D2A_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.247+553G>A benign r.(=) p.(=) Unknown g.15483004G>A - CC2D2A:c.*168G>A - CC2D2A_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.247+751C>T likely benign r.(=) p.(=) Unknown g.15483202C>T - CC2D2A:c.*366C>T - CC2D2A_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.248-41del benign r.(=) p.(=) Unknown g.15504011del - CC2D2A:c.248-41delT - CC2D2A_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.336+1G>T likely pathogenic r.spl? p.? Unknown g.15504141G>T - CC2D2A:c.336+1G>T - CC2D2A_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.351T>G VUS r.(?) p.(Ser117Arg) Unknown g.15504459T>G - CC2D2A:c.351T>G (S117R) - CC2D2A_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.355T>C benign r.(=) p.(=) Unknown g.15504463T>C - CC2D2A:c.355T>C (=) - CC2D2A_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.355T>C likely benign r.(=) p.(=) Unknown g.15504463T>C - CC2D2A:c.355T>C (=) - CC2D2A_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.517C>T - r.(517c>u) p.(Arg173*) Unknown g.15511840C>T g.15510217C>T Arg173X - CC2D2A_000003 1 Mauritanian MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.541-25G>T benign r.(=) p.(=) Unknown g.15512845G>T - CC2D2A:c.541-25G>T - CC2D2A_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.541-20T>G likely benign r.(=) p.(=) Unknown g.15512850T>G - CC2D2A:c.541-20T>G - CC2D2A_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.541-20T>G likely benign r.(=) p.(=) Unknown g.15512850T>G - CC2D2A:c.541-20T>G - CC2D2A_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.541-5G>A likely benign r.spl? p.? Unknown g.15512865G>A - CC2D2A:c.541-5G>A - CC2D2A_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.590T>C VUS r.(?) p.(Phe197Ser) Unknown g.15512919T>C - CC2D2A:c.590T>C (F197S) - CC2D2A_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41) Both (homozygous) g.15512979del g.15511356del - - CC2D2A_000031 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - COACH - Trujillano et al., submitted no information from parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.676_678del benign r.(?) p.(Glu229del) Unknown g.15513005_15513007del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.676_678del likely benign r.(?) p.(Glu229del) Unknown g.15513005_15513007del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #1 g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #1 g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 9 c.685_687del - r.(?) p.(Glu229del) Parent #2 g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
-/. - c.685_687del benign r.(?) p.(Glu229del) Unknown g.15513014_15513016del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.685_687del benign r.(?) p.(Glu229del) Unknown g.15513014_15513016del - CC2D2A:c.685_687delGAA (E229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.685_687del likely benign r.(?) p.(Glu229del) Unknown g.15513014_15513016del - CC2D2A:NM_001080522.2:c.685_687del (Glu229del) - CC2D2A_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.685_687delGAA - r.(685_687delgaa) p.(Glu229del) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712G>T pathogenic r.(?) p.(Glu238*) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.719A>T likely benign r.(?) p.(Asp240Val) Unknown g.15516331A>T - CC2D2A:NM_001080522.2:c.719A>T - CC2D2A_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.745G>A VUS r.(?) p.(Asp249Asn) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762A>G benign r.(=) p.(=) Unknown g.15516374A>G - CC2D2A:c.762A>G (=) - CC2D2A_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.777C>T benign r.(=) p.(=) Unknown g.15516389C>T - CC2D2A:c.777C>T (=) - CC2D2A_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>A likely benign r.(?) p.(Asp262Glu) Unknown g.15516398C>A - CC2D2A:c.786C>A (D262E) - CC2D2A_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40) Unknown g.15516446delG g.15514823delG Leu279CysfsX40 - CC2D2A_000004 1 American MKS6 family (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.880+1_880+2insA likely benign r.spl? p.? Unknown g.15516493_15516494insA - CC2D2A:c.880+3dupA - CC2D2A_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.922T>C likely benign r.(?) p.(Phe308Leu) Unknown g.15517532T>C - CC2D2A:c.922T>C (F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.922T>C likely benign r.(?) p.(Phe308Leu) Unknown g.15517532T>C - CC2D2A:c.922T>C (F308L) - CC2D2A_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.945C>A pathogenic r.(?) p.(Tyr315*) Unknown g.15517555C>A - CC2D2A:c.945C>A (Y315*) - CC2D2A_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1127A>C benign r.(?) p.(Glu376Ala) Unknown g.15518357A>C - CC2D2A:c.1127A>C (E376A) - CC2D2A_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1150-13C>G benign r.(=) p.(=) Unknown g.15529057C>G - CC2D2A:c.1150-13C>G - CC2D2A_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A likely benign r.(?) p.(Val388Ile) Unknown g.15529082G>A - CC2D2A:c.1162G>A (V388I) - CC2D2A_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1267C>T pathogenic r.(?) p.(Arg423*) Unknown g.15529187C>T - CC2D2A:c.1267C>T (R423*) - CC2D2A_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11) Unknown g.15529259delG g.15527636delG Ala447ArgfsX11 - CC2D2A_000005 1 MKS6 family with undetermined ethnicity (het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451A>G VUS r.(?) p.(Tyr484Cys) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1519A>G benign r.(?) p.(Lys507Glu) Unknown g.15534868A>G - CC2D2A:c.1519A>G (K507E) - CC2D2A_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1519A>G benign r.(?) p.(Lys507Glu) Unknown g.15534868A>G - CC2D2A:c.1519A>G (K507E) - CC2D2A_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg) Paternal (confirmed) g.15534886T>A g.15533263T>A Trp513X - CC2D2A_000006 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1722C>T likely benign r.(=) p.(=) Unknown g.15538657C>T - CC2D2A:c.1722C>T (=) - CC2D2A_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29 Unknown g.15538697C>T g.15537074C>T - - CC2D2A_000007 variant creates new donor splice site; second most common Finnish MKS mutation: 11 Finnish MKS6 families (hom); also in European MKS6 patients PubMed: Tallila al. 2008 - rs116358011 SUMMARY record yes 3/575 FIN (het) - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1762C>T pathogenic r.(?) p.(Gln588*) Unknown g.15538697C>T - CC2D2A:NM_001080522.2:c.1762C>T (Gln588*) - CC2D2A_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1765-8C>G VUS r.(=) p.(=) Unknown g.15539514C>G - CC2D2A:c.1765-8C>G - CC2D2A_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 17 c.1810G>A - r.(?) p.(Gly604Ser) Parent #2 g.15539567G>A g.15537944G>A - - CC2D2A_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. - c.1889T>G VUS r.(?) p.(Ile630Arg) Unknown g.15539646T>G - CC2D2A:c.1889T>G (I630R) - CC2D2A_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1978G>A benign r.(?) p.(Val660Ile) Unknown g.15539735G>A - CC2D2A:c.1978G>A (V660I) - CC2D2A_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1984C>T VUS r.(?) p.(Pro662Ser) Unknown g.15539741C>T - CC2D2A:c.1984C>T (P662S) - CC2D2A_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2003+19C>T benign r.(=) p.(=) Unknown g.15539779C>T - CC2D2A:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2003+19C>T benign r.(=) p.(=) Unknown g.15539779C>T - CC2D2A:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2003+19C>T benign r.(=) p.(=) Unknown g.15539779C>T - CC2D2A:NM_001080522.2:c.2003+19C>T - CC2D2A_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2039G>A likely benign r.(?) p.(Arg680His) Unknown g.15542495G>A - CC2D2A:c.2039G>A (R680H) - CC2D2A_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2162C>T VUS r.(?) p.(Pro721Leu) Unknown g.15542618C>T - CC2D2A:c.2162C>T (P721L) - CC2D2A_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2205T>G likely benign r.(?) p.(Ser735Arg) Unknown g.15552470T>G - CC2D2A:NM_001080522.2:c.2205T>G - CC2D2A_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2259C>T likely benign r.(=) p.(=) Unknown g.15552524C>T - CC2D2A:c.2259C>T (V753=) - CC2D2A_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2344C>T likely benign r.(?) p.(Pro782Ser) Unknown g.15554786C>T - CC2D2A:NM_001080522.2:c.2344C>T - CC2D2A_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2483G>A likely benign r.(?) p.(Arg828Gln) Unknown g.15554925G>A - CC2D2A:c.2483G>A (R828Q) - CC2D2A_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 22i c.2486+1G>C - r.spl? p.? Parent #1 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 - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2728C>T likely pathogenic r.(?) p.(Arg910*) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 24 c.2773C>T - r.(2773c>u) p.(Arg925*) Unknown g.15559074C>T g.15557451C>T Arg925X - CC2D2A_000009 1 French MKS6 family (com-het) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2803C>T - r.(?) p.(Arg935*) Parent #1 g.15559104C>T g.15557481C>T - - CC2D2A_000030 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
-?/. - c.2813T>C likely benign r.(?) p.(Met938Thr) Unknown g.15559114T>C - CC2D2A:NM_001080522.2:c.2813T>C - CC2D2A_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2829+18del benign r.(=) p.(=) Unknown g.15559148del - CC2D2A:c.2829+18delA - CC2D2A_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2830-97A>G benign r.(=) p.(=) Unknown g.15560691A>G - CC2D2A:c.2830-97A>G - CC2D2A_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2848C>T pathogenic r.(?) p.(Arg950*) Unknown g.15560806C>T - CC2D2A:c.2848C>T (R950*) - CC2D2A_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 23 c.2875del - r.(?) p.(Glu959Asnfs*3) Both (homozygous) g.15560833del g.15559210del - - CC2D2A_000029 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
?/. - c.2885A>G VUS r.(?) p.(Asp962Gly) Unknown g.15560843A>G - CC2D2A:c.2885A>G (D962G) - CC2D2A_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2913C>A pathogenic r.(?) p.(Tyr971*) Unknown g.15560871C>A - CC2D2A:c.2913C>A (Y971*) - CC2D2A_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2922+4dup benign r.spl? p.? Unknown g.15560884dup - CC2D2A:c.2922+5_2922+6insA - CC2D2A_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2922+10dup likely benign r.(=) p.(=) Unknown g.15560890dup - CC2D2A:c.2922+9_2922+10insA - CC2D2A_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2923-13T>C likely benign r.(=) p.(=) Unknown g.15562141T>C - CC2D2A:c.2923-13T>C - CC2D2A_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3084del pathogenic r.(?) p.(Lys1029Argfs*3) Unknown g.15565047del - CC2D2A:NM_001080522.2:c.3084del (Lys1029fs) - CC2D2A_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly) Unknown g.15565108C>G g.15563485C>G Arg1049X - CC2D2A_000011 1 Guadeloupean MKS6 family (hom) PubMed: Mougou-Zerelli et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3157A>G VUS r.(?) p.(Ile1053Val) Unknown g.15565120A>G - CC2D2A:c.3157A>G (I1053V) - CC2D2A_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3183-8T>C benign r.(=) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3201G>A benign r.(=) p.(=) Unknown g.15569018G>A - CC2D2A:c.3201G>A (=) - CC2D2A_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3201G>A benign r.(=) p.(=) Unknown g.15569018G>A - CC2D2A:NM_001080522.2:c.3201G>A (=) - CC2D2A_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3280C>G benign r.(?) p.(Leu1094Val) Unknown g.15569097C>G - CC2D2A:c.3280C>G (L1094V) - CC2D2A_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3288G>C VUS r.(?) p.(Gln1096His) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3288+2del pathogenic r.spl? p.? Unknown g.15569107del - CC2D2A:c.3288+2delG - CC2D2A_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 26i c.3289-1delG - r.spl p.? Parent #1 g.15569299delG g.15567676delG - - CC2D2A_000026 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+/+ 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?] Unknown g.15569300delG g.15567677delG Val1097fs - CC2D2A_000012 first nt exon 29; 2 European MKS6 families (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3325C>T pathogenic r.(?) p.(Arg1109*) Unknown g.15569336C>T - CC2D2A:c.3325C>T (R1109*) - CC2D2A_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 29 c.3341C>T - r.(3341c>u) p.(Thr1114Met) Unknown g.15569352C>T g.15567729C>T - - CC2D2A_000013 1 European MKS6 family (com-het) PubMed: Tallila al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
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