All variants in the CFP gene

Information The variants shown are described using the NM_002621.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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     
-?/. 2 c.13G>A r.(?) p.(Gly5Arg) - likely benign g.47489231C>T g.47629832C>T - - CFP_000008 - - - - Germline ? - - - - Cigdem Koroglu
-?/. - c.88G>A r.(?) p.(Val30Met) - likely benign g.47489062C>T g.47629663C>T CFP(NM_002621.2):c.88G>A (p.V30M) - CFP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.121G>A r.(?) p.(Gly41Ser) - likely benign g.47489029C>T g.47629630C>T CFP(NM_002621.2):c.121G>A (p.G41S) - CFP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.157G>A r.(?) p.(Val53Met) - likely benign g.47488993C>T g.47629594C>T CFP(NM_002621.2):c.157G>A (p.V53M) - CFP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.157G>A r.(?) p.(Val53Met) - likely benign g.47488993C>T - CFP(NM_002621.2):c.157G>A (p.V53M) - CFP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.157G>A r.(?) p.(Val53Met) - likely benign g.47488993C>T - CFP(NM_002621.2):c.157G>A (p.V53M) - CFP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.209G>A r.(?) p.(Gly70Glu) - VUS g.47488941C>T g.47629542C>T CFP(NM_002621.2):c.209G>A (p.G70E) - CFP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.228-237dup r.(=) p.(=) - VUS g.47487913dup g.47628514dup - - CFP_000006 - - - - Germline - - - - - Yu Sun
?/. - c.228-237dup r.(=) p.(=) - VUS g.47487913dup g.47628514dup - - CFP_000017 - - - - Germline - - - - - Yu Sun
?/. - c.228-237dup r.(=) p.(=) - VUS g.47487913dup g.47628514dup - - CFP_000006 - - - - Germline - - - - - Yu Sun
?/. - c.228-237dup r.(=) p.(=) - VUS g.47487913dup g.47628514dup - - CFP_000017 - - - - Germline - - - - - Yu Sun
-/. - c.228-237dup r.(=) p.(=) - benign g.47487913dup g.47628514dup CFP(NM_002621.2):c.228-237dupC - CFP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.236G>A r.(?) p.(Arg79Gln) - benign g.47487668C>T g.47628269C>T CFP(NM_002621.2):c.236G>A (p.R79Q) - CFP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.359T>C r.(?) p.(Leu120Pro) - VUS g.47487545A>G g.47628146A>G L120P - CFP_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. - c.391C>G r.(?) p.(Gln131Glu) - benign g.47487513G>C g.47628114G>C CFP(NM_001145252.1):c.391C>G (p.(Gln131Glu)), CFP(NM_002621.2):c.391C>G (p.Q131E) - CFP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.391C>G r.(?) p.(Gln131Glu) - VUS g.47487513G>C g.47628114G>C CFP(NM_001145252.1):c.391C>G (p.(Gln131Glu)), CFP(NM_002621.2):c.391C>G (p.Q131E) - CFP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.403+9G>A r.(=) p.(=) - likely benign g.47487492C>T g.47628093C>T CFP(NM_002621.2):c.403+9G>A - CFP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.444C>T r.(?) p.(Cys148=) - likely benign g.47487000G>A - CFP(NM_002621.2):c.444C>T (p.C148=) - CFP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.476G>A r.(?) p.(Arg159His) - likely benign g.47486968C>T g.47627569C>T CFP(NM_002621.2):c.476G>A (p.R159H) - CFP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.575-8C>G r.(=) p.(=) - VUS g.47486739G>C - - - CFP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.580G>A r.(?) p.(Gly194Arg) - VUS g.47486726C>T - CFP(NM_002621.2):c.580G>A (p.G194R) - CFP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.580G>A r.(?) p.(Gly194Arg) - VUS g.47486726C>T - CFP(NM_002621.2):c.580G>A (p.G194R) - CFP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.580G>A r.(?) p.(Gly194Arg) - VUS g.47486726C>T - CFP(NM_002621.2):c.580G>A (p.G194R) - CFP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.608C>G r.(?) p.(Thr203Ser) - likely benign g.47486698G>C g.47627299G>C CFP(NM_002621.2):c.608C>G (p.T203S) - CFP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.631G>A r.(?) p.(Gly211Ser) - VUS g.47486675C>T - CFP(NM_002621.2):c.631G>A (p.G211S) - CFP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.663C>T r.(?) p.(Ser221=) - likely benign g.47486643G>A g.47627244G>A CFP(NM_002621.2):c.663C>T (p.S221=) - CFP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.663C>T r.(?) p.(Ser221=) - likely benign g.47486643G>A g.47627244G>A CFP(NM_002621.2):c.663C>T (p.S221=) - CFP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.665G>A r.(?) p.(Arg222His) - likely pathogenic g.47486641C>T g.47627242C>T NM_002621.2(CFP):c.665G>A p.(Arg222His) - CFP_000018 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.665G>A r.(?) p.(Arg222His) - VUS g.47486641C>T g.47627242C>T CFP(NM_002621.2):c.665G>A (p.R222H) - CFP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.680C>T r.(?) p.(Pro227Leu) - VUS g.47486626G>A g.47627227G>A CFP(NM_002621.2):c.680C>T (p.P227L) - CFP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.686C>G r.(?) p.(Pro229Arg) - benign g.47486620G>C g.47627221G>C CFP(NM_002621.2):c.686C>G (p.P229R) - CFP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.729C>T r.(?) p.(Tyr243=) - likely benign g.47486577G>A - CFP(NM_002621.2):c.729C>T (p.Y243=) - CFP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.747C>T r.(?) p.(Thr249=) - likely benign g.47486559G>A g.47627160G>A CFP(NM_002621.2):c.747C>T (p.T249=) - CFP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.748G>A r.(?) p.(Gly250Ser) - VUS g.47486558C>T g.47627159C>T CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S) - CFP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.748G>A r.(?) p.(Gly250Ser) - likely benign g.47486558C>T g.47627159C>T CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S) - CFP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.748G>A r.(?) p.(Gly250Ser) - VUS g.47486558C>T g.47627159C>T CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S) - CFP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.766+54G>T r.(=) p.(=) - VUS g.47486486C>A g.47627087C>A - - CFP_000005 - - - - Germline - - - - - Yu Sun
?/. - c.766+54G>T r.(=) p.(=) - VUS g.47486486C>A g.47627087C>A - - CFP_000005 - - - - Germline - - - - - Yu Sun
?/. - c.865C>T r.(?) p.(Pro289Ser) - VUS g.47486247G>A - CFP(NM_002621.2):c.865C>T (p.P289S) - CFP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.894C>T r.(?) p.(Gly298=) - likely benign g.47486218G>A - CFP(NM_002621.2):c.894C>T (p.G298=) - CFP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.895G>A r.(?) p.(Asp299Asn) - likely benign g.47486217C>T g.47626818C>T CFP(NM_002621.2):c.895G>A (p.D299N) - CFP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.895G>A r.(?) p.(Asp299Asn) - likely benign g.47486217C>T g.47626818C>T CFP(NM_002621.2):c.895G>A (p.D299N) - CFP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.913A>G r.(?) p.(Ile305Val) - likely benign g.47486199T>C g.47626800T>C CFP(NM_002621.2):c.913A>G (p.I305V) - CFP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.940+7A>G r.(=) p.(=) - likely benign g.47486165T>C - CFP(NM_002621.2):c.940+7A>G - CFP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.941-10G>A r.(=) p.(=) - likely benign g.47485928C>T - CFP(NM_002621.2):c.941-10G>A - CFP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.955G>A r.(?) p.(Asp319Asn) - likely benign g.47485904C>T - CFP(NM_002621.2):c.955G>A (p.D319N) - CFP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.961T>G r.(?) p.(Trp321Gly) - likely pathogenic g.47485898A>C g.47626499A>C - - CFP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1133-6T>C r.(=) p.(=) - likely benign g.47485574A>G g.47626175A>G CFP(NM_002621.2):c.1133-6T>C - CFP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1180C>T r.(?) p.(Pro394Ser) - VUS g.47485521G>A g.47626122G>A CFP(NM_001145252.1):c.1180C>T (p.(Pro394Ser)), CFP(NM_002621.2):c.1180C>T (p.P394S) - CFP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1180C>T r.(?) p.(Pro394Ser) - VUS g.47485521G>A - CFP(NM_001145252.1):c.1180C>T (p.(Pro394Ser)), CFP(NM_002621.2):c.1180C>T (p.P394S) - CFP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 9 c.1187G>A r.(?) p.(Gly396Glu) - VUS g.47485514C>T g.47626115C>T G396E - CFP_000028 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.1224A>T r.(?) p.(Thr408=) - likely benign g.47485477T>A - CFP(NM_002621.2):c.1224A>T (p.T408=) - CFP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1239G>C r.(?) p.(Lys413Asn) - VUS g.47485462C>G - - - CFP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1245-100dup r.(=) p.(=) - VUS g.47483957dup g.47624558dup - - CFP_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1245-100_1245-99del r.(=) p.(=) - VUS g.47483938_47483939del g.47624539_47624540del - - CFP_000016 - - - - Germline - - - - - Yu Sun
?/. - c.1245-99del r.(=) p.(=) - VUS g.47483938del g.47624539del - - CFP_000015 - - - - Germline - - - - - Yu Sun
-?/. 9i c.1245-86T>C r.(?) p.(=) - likely benign g.47483925A>G g.47624526A>G - - CFP_000007 - - - - Germline - - - - - Yu Sun
-?/. 9i c.1245-86T>C r.(?) p.(=) - likely benign g.47483925A>G g.47624526A>G - - CFP_000007 - - - - Germline - - - - - Yu Sun
-?/. 10 c.1284C>T r.(?) p.(Asn428=) - likely benign g.47483800G>A g.47624401G>A - - CFP_000002 - - - - Germline - - - - - Yu Sun
-?/. 10 c.1284C>T r.(?) p.(Asn428=) - likely benign g.47483800G>A g.47624401G>A - - CFP_000002 - - - - Germline - - - - - Yu Sun
-/. - c.1284C>T r.(?) p.(Asn428=) - benign g.47483800G>A g.47624401G>A CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 10 c.1284C>T r.(?) p.(=) - VUS g.47483800G>A g.47624401G>A N428N - CFP_000002 recurrent, found 26 times PubMed: Tarpey 2009 - - Germline - 26/208 cases - - - Lucy Raymond
-/. - c.1284C>T r.(?) p.(Asn428=) - benign g.47483800G>A g.47624401G>A CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1328A>G r.(?) p.(Gln443Arg) - VUS g.47483756T>C g.47624357T>C CFP(NM_002621.2):c.1328A>G (p.Q443R) - SYN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4466T>C r.(=) p.(=) - likely benign g.47479208A>G g.47619809A>G SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*4519C>G r.(=) p.(=) - likely benign g.47479155G>C g.47619756G>C SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*4635C>G r.(=) p.(=) - VUS g.47479039G>C - SYN1(NM_133499.2):c.89C>G (p.P30R) - SYN1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*4685G>A r.(=) p.(=) - likely benign g.47478989C>T g.47619590C>T SYN1(NM_006950.3):c.139G>A (p.G47R) - SYN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4698C>G r.(=) p.(=) - likely benign g.47478976G>C g.47619577G>C SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly)) - SYN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4735G>T r.(=) p.(=) - likely benign g.47478939C>A g.47619540C>A SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4735G>T r.(=) p.(=) - likely benign g.47478939C>A - SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*4898G>A r.(=) p.(=) - VUS g.47478776C>T - SYN1(NM_006950.3):c.352G>A (p.V118I) - SYN1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4910C>T r.(=) p.(=) - likely benign g.47478764G>A g.47619365G>A SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4910C>T r.(=) p.(=) - likely benign g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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