All variants in the CCM2 gene


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_031443.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. _1_1i c.(?_-848)_(30+1_31-1)del r.0? p.0? - likely pathogenic g.(?_45039085)_(45039963_45077851)del - - - CCM2_000040 - - - - Germline yes - - 0 - Carmela Fusco
?/. - c.3G>A r.(?) p.(Met1?) - VUS g.45039935G>A g.45000336G>A CCM2(NM_031443.3):c.3G>A (p.M1?) - CCM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.30G>A r.(?) p.(Lys10=) - pathogenic g.45039962G>A g.45000363G>A CCM2(NM_031443.3):c.30G>A (p.K10=) - CCM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.30+2T>C r.spl? p.? - pathogenic g.45039964T>C g.45000365T>C CCM2(NM_031443.3):c.30+2T>C - CCM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.30+95G>C r.(=) p.(=) - benign g.45040057G>C g.45000458G>C CCM2(NM_031443.3):c.30+95G>C - CCM2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.31-10585G>C r.(=) p.(=) - benign g.45067267G>C g.45027668G>C CCM2(NM_001029835.2):c.-37G>C, CCM2(NM_031443.3):c.31-10585G>C - CCM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.31-10585G>C r.(=) p.(=) - benign g.45067267G>C g.45027668G>C CCM2(NM_001029835.2):c.-37G>C, CCM2(NM_031443.3):c.31-10585G>C - CCM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 1i_2i c.(30+1_31-1)_(204+1_205-1)del r.? p.? - likely pathogenic g.(45039963_45077851)_45078026_45103516)del - - - CCM2_000038 - - - - Germline yes - - 0 - Carmela Fusco
+/. - c.55C>T r.(?) p.(Arg19Ter) - pathogenic g.45077876C>T g.45038277C>T CCM2(NM_031443.3):c.55C>T (p.R19*) - CCM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2 c.113_116del r.(?) p.(Glu38Glyfs*21) - pathogenic g.45077934_45077937del g.45038335_45038338del 111_114delAGAG - CCM2_000036 - - - - Germline - - - 0 - Kang-Yang Jih
+?/. 2 c.134_135del r.(?) p.(Val45Glyfs*6) - likely pathogenic g.45077955_45077956del g.45038356_45038357del 134_135delTG - CCM2_000037 - - - - Germline yes - - 0 - Carmela Fusco
+?/. 2 c.134_135del r.(?) p.(Val45Glyfs*6) - likely pathogenic g.45077955_45077956del g.45038356_45038357del 134_135delTG - CCM2_000037 - - - - Germline yes - - 0 - Carmela Fusco
+?/. 14 c.134_135del r.(?) p.(Val45Glyfs*6) - likely pathogenic g.45077955_45077956del g.45038356_45038357del 134_135delTG - CCM2_000037 - - - - Germline yes - - 0 - Carmela Fusco
+?/. - c.134_135del r.(?) p.(Val45Glyfs*6) - likely pathogenic g.45077955_45077956del g.45038356_45038357del 134_135delTG - CCM2_000037 - - - - Germline yes - - 0 - Carmela Fusco
-/. - c.157G>A r.(?) p.(Val53Ile) - benign g.45077978G>A g.45038379G>A CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I) - CCM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.157G>A r.(?) p.(Val53Ile) - benign g.45077978G>A g.45038379G>A CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I) - CCM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.157G>A r.(?) p.(Val53Ile) - benign g.45077978G>A g.45038379G>A CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I) - CCM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.169_172del r.(?) p.(Arg57CysfsTer2) - pathogenic g.45077990_45077993del g.45038391_45038394del CCM2(NM_031443.3):c.169_172delAGAC (p.R57Cfs*2) - CCM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.204+1dup r.spl? p.? - likely pathogenic g.45078026dup g.45038427dup CCM2(NM_001029835.2):c.267dupG (p.Y90Vfs*17) - CCM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.205-230T>G r.(=) p.(=) - benign g.45103287T>G g.45063688T>G CCM2(NM_001029835.2):c.268-230T>G - CCM2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.232G>T r.(?) p.(Gly78Ter) - pathogenic g.45103544G>T g.45063945G>T CCM2(NM_031443.3):c.232G>T (p.G78*) - CCM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.236_237del r.(?) p.(Tyr79Serfs*6) - likely pathogenic g.45103548_45103549del g.45063949_45063950del - - CCM2_000002 - - - - Germline yes - - 0 - Janneke Weiss
+/. - c.236_237del r.(?) p.(Tyr79SerfsTer6) - pathogenic g.45103548_45103549del g.45063949_45063950del CCM2(NM_031443.3):c.236_237delAC (p.Y79Sfs*6) - CCM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.246C>T r.(?) p.(Pro82=) - likely benign g.45103558C>T g.45063959C>T CCM2(NM_031443.3):c.246C>T (p.P82=) - CCM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 4 c.319C>T r.(?) p.(Gln107*) - pathogenic g.45104092C>T g.45064493C>T - - CCM2_000001 - - - - Germline - - - 0 - James Whitworth
-?/. - c.328G>A r.(?) p.(Asp110Asn) - likely benign g.45104101G>A g.45064502G>A CCM2(NM_001029835.2):c.391G>A (p.D131N) - CCM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.351G>A r.(?) p.(Ala117=) - benign g.45104124G>A g.45064525G>A CCM2(NM_031443.3):c.351G>A (p.A117=) - CCM2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.355_357del r.(?) p.(Asn119del) - VUS g.45104128_45104130del - CCM2(NM_001363458.2):c.355_357delAAC (p.N119del) - CCM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.358G>A r.(?) p.(Val120Ile) - benign g.45104131G>A g.45064532G>A CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I) - CCM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.358G>A r.(?) p.(Val120Ile) - benign g.45104131G>A g.45064532G>A CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I) - CCM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.358G>A r.(?) p.(Val120Ile) - benign g.45104131G>A g.45064532G>A CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I) - CCM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.367G>C r.(?) p.(Ala123Pro) - VUS g.45104140G>C g.45064541G>C CCM2(NM_031443.3):c.367G>C (p.A123P) - CCM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.431A>G r.(?) p.(Tyr144Cys) - VUS g.45104204A>G g.45064605A>G CCM2(NM_001029835.2):c.494A>G (p.Y165C) - CCM2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.455T>C r.(?) p.(Leu152Pro) - VUS g.45104228T>C g.45064629T>C CCM2(NM_031443.3):c.455T>C (p.L152P) - CCM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.470dup r.(?) p.(Ala158SerfsTer78) - pathogenic g.45104243dup g.45064644dup CCM2(NM_031443.3):c.470dupC (p.A158Sfs*78) - CCM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.472+127C>T r.(=) p.(=) - benign g.45104372C>T g.45064773C>T CCM2(NM_001029835.2):c.535+127C>T - CCM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.564_571del r.(?) p.(Pro189GlyfsTer44) - pathogenic g.45108133_45108140del g.45068534_45068541del CCM2(NM_031443.3):c.564_571delGCCCGTGG (p.P189Gfs*44) - CCM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 5 c.568G>A r.(?) p.(Val190Met) - likely pathogenic g.45108137G>A g.45068538G>A NM_001029835.2:631G>A (V211M) - CCM2_000035 - - - - Germline - - - 0 - Kang-Yang Jih
?/. - c.568G>A r.(?) p.(Val190Met) - VUS g.45108137G>A g.45068538G>A - - CCM2_000035 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200358025 Germline - 5/2795 individuals - 0 - Mohammed Faruq
-?/. - c.573G>C r.(?) p.(Glu191Asp) - likely benign g.45108142G>C g.45068543G>C CCM2(NM_001029835.2):c.636G>C (p.E212D) - CCM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.578_582del r.(?) p.(Cys193SerfsTer41) - pathogenic g.45108147_45108151del g.45068548_45068552del CCM2(NM_031443.3):c.578_582delGCTGC (p.C193Sfs*41) - CCM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.579C>A r.(?) p.(Cys193Ter) - pathogenic g.45108148C>A g.45068549C>A CCM2(NM_031443.3):c.579C>A (p.C193*) - CCM2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.596dup r.(?) p.(Ala200CysfsTer36) - pathogenic g.45108165dup g.45068566dup CCM2(NM_001029835.2):c.659dupC (p.A221Cfs*36) - CCM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.609+1_609+9del r.spl? p.? - pathogenic g.45108179_45108187del g.45068580_45068588del CCM2(NM_001029835.2):c.672+1_672+9delGTGAGACTT - CCM2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.635T>C r.(?) p.(Leu212Pro) - VUS g.45109450T>C g.45069851T>C CCM2(NM_001029835.2):c.698T>C (p.L233P), CCM2(NM_031443.3):c.635T>C (p.L212P) - CCM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.635T>C r.(?) p.(Leu212Pro) - likely pathogenic g.45109450T>C g.45069851T>C CCM2(NM_001029835.2):c.698T>C (p.L233P), CCM2(NM_031443.3):c.635T>C (p.L212P) - CCM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.745+1G>A r.spl? p.? - pathogenic g.45109561G>A g.45069962G>A CCM2(NM_001029835.2):c.808+1G>A - CCM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.745+23G>T r.(=) p.(=) - likely benign g.45109583G>T g.45069984G>T CCM2(NM_001029835.2):c.808+23G>T - CCM2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.804-5C>T r.spl? p.? - benign g.45113054C>T g.45073455C>T CCM2(NM_031443.3):c.804-5C>T - CCM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.804-5C>T r.spl? p.? - likely benign g.45113054C>T g.45073455C>T CCM2(NM_031443.3):c.804-5C>T - CCM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.866G>A r.(?) p.(Ser289Asn) - likely benign g.45113121G>A g.45073522G>A CCM2(NM_031443.3):c.866G>A (p.S289N) - CCM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.866G>A r.(?) p.(Ser289Asn) - benign g.45113121G>A g.45073522G>A CCM2(NM_031443.3):c.866G>A (p.S289N) - CCM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.915G>A r.(?) p.(Thr305=) - benign g.45113170G>A g.45073571G>A CCM2(NM_031443.3):c.915G>A (p.T305=) - CCM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.915G>A r.(?) p.(Thr305=) - benign g.45113170G>A g.45073571G>A CCM2(NM_031443.3):c.915G>A (p.T305=) - CCM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.915G>A r.(?) p.(Thr305=) - benign g.45113170G>A g.45073571G>A CCM2(NM_031443.3):c.915G>A (p.T305=) - CCM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 8i_9i c.(915+1_916-1)_(1054+1_1055-1)del r.? p.? - likely pathogenic g.(45113171_45113868)_(5114008_45115375)del - - - CCM2_000039 - - - - Germline yes - - 0 - Carmela Fusco
-/. - c.1054+12C>T r.(=) p.(=) - benign g.45114019C>T g.45074420C>T CCM2(NM_001363458.2):c.1177+12C>T, CCM2(NM_031443.3):c.1054+12C>T - CCM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1054+12C>T r.(=) p.(=) - likely benign g.45114019C>T - CCM2(NM_001363458.2):c.1177+12C>T, CCM2(NM_031443.3):c.1054+12C>T - CCM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1075G>T r.(?) p.(Glu359Ter) - pathogenic g.45115396G>T g.45075797G>T CCM2(NM_031443.3):c.1075G>T (p.E359*) - CCM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1091A>G r.(?) p.(His364Arg) - likely benign g.45115412A>G g.45075813A>G CCM2(NM_001029835.2):c.1154A>G (p.H385R) - CCM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*6A>G r.(=) p.(=) - benign g.45115662A>G g.45076063A>G CCM2(NM_031443.3):c.*6A>G - CCM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*19del r.(?) p.(=) - benign g.45115675del g.45076076del CCM2(NM_031443.3):c.*19delG - CCM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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