Unique variants in the CXorf59 gene

NOTE: gene name changed from CXorf59 to CFAP47
Information The variants shown are described using the NM_001304548.1 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-1_6818-10658{inv} r.? p.? - pathogenic 1 more item - - - DMD_068316 4.1-Mb inversion ex1-44 incl. non-contiguous duplication exons 31-37 and 43-44 PubMed: Waddell 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.0 r.0 p.0 - pathogenic g.(33000000_34147944)_(37312950_37400000)del - chrX:(34147944-37312950)x1 - CXorf59_000031 3.2Mb deletion PubMed: Liu 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 45i c.? r.? p.? - pathogenic (recessive) g.32521892_35180364inv - - - DMD_068315 2.6 Mb inversion incl. FAM47A, FAM47B, and TMEM47 PubMed: Waddell 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.10C>T r.(?) p.(Gln4Ter) - VUS g.35937926C>T g.35919809C>T CXorf22(NM_152632.3):c.10C>T (p.(Gln4Ter)) - CXorf22_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.122G>C r.(?) p.(Arg41Pro) - VUS g.35938038G>C g.35919921G>C CFAP47(NM_001304548.1):c.122G>C (p.R41P) - CXorf59_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.178C>T r.(?) p.(Leu60Phe) - VUS g.35938094C>T g.35919977C>T CFAP47(NM_001304548.1):c.178C>T (p.L60F) - CXorf59_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.545A>G r.(?) p.(Gln182Arg) - VUS g.35966458A>G g.35948341A>G CXorf22(NM_152632.3):c.545A>G (p.(Gln182Arg)) - CXorf22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1131T>G r.(?) p.(Ser377Arg) - likely benign g.35971793T>G g.35953676T>G CFAP47(NM_001304548.1):c.1131T>G (p.S377R) - CXorf59_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1322A>G r.(?) p.(Glu441Gly) - VUS g.35974225A>G g.35956108A>G CXorf22(NM_152632.3):c.1322A>G (p.E441G) - CXorf59_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1694C>T r.(?) p.(Ser565Leu) - VUS g.35985829C>T g.35967712C>T CXorf22(NM_152632.3):c.1694C>T (p.(Ser565Leu)) - CXorf22_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2630A>G r.(?) p.(Asn877Ser) - VUS g.35993947A>G - CFAP47(NM_001304548.1):c.2630A>G (p.N877S) - CXorf59_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3027A>G r.(?) p.(Pro1009=) - likely benign g.36011366A>G - CFAP47(NM_001304548.1):c.3027A>G (p.P1009=) - CXorf22_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3573G>T r.(?) p.(Leu1191Phe) - VUS g.36049386G>T - CFAP47(NM_001304548.1):c.3573G>T (p.L1191F) - CXorf59_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4016C>T r.(?) p.(Thr1339Ile) - likely benign g.36064979C>T g.36046862C>T CFAP47(NM_001304548.1):c.4016C>T (p.T1339I) - CXorf59_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4140T>C r.(?) p.(Thr1380=) - likely benign g.36065103T>C g.36046986T>C CFAP47(NM_001304548.1):c.4140T>C (p.T1380=) - CXorf59_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4373A>T r.(?) p.(Asp1458Val) - likely benign g.36089996A>T g.36071879A>T CHDC2(NM_173695.2):c.98A>T (p.(Asp33Val)) - CXorf59_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.4589A>C r.(?) p.(His1530Pro) - likely benign, VUS g.36091379A>C g.36073262A>C CHDC2(NM_173695.2):c.314A>C (p.(His105Pro)) - CXorf59_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Leiden
-?/. 1 - c.4659C>T r.(?) p.(Pro1553=) - likely benign g.36091449C>T g.36073332C>T CFAP47(NM_001304548.1):c.4659C>T (p.P1553=) - CXorf59_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4916+3A>G r.spl? p.? - VUS g.36103658A>G g.36085541A>G CHDC2(NM_173695.2):c.641+3A>G (p.?) - CXorf59_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5101A>G r.(?) p.(Thr1701Ala) - VUS g.36117970A>G g.36099853A>G CHDC2(NM_173695.2):c.826A>G (p.(Thr276Ala)) - CXorf59_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5144G>A r.(?) p.(Arg1715His) - VUS g.36122632G>A g.36104515G>A CHDC2(NM_173695.2):c.869G>A (p.(Arg290His)) - CXorf59_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.5224A>G r.(?) p.(Ser1742Gly) - pathogenic g.36122712A>G - - - CXorf59_000030 - PubMed: Liu 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.5536-441A>G r.(=) p.(=) - VUS g.36162895A>G g.36144778A>G CHDC2(NM_173695.2):c.1478A>G (p.(His493Arg)) - CXorf59_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5631G>A r.(?) p.(Val1877=) - likely benign g.36163431G>A - CFAP47(NM_001304548.1):c.5631G>A (p.V1877=) - CXorf22_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.7154T>A r.(?) p.(Ile2385Asn) - pathogenic g.36254190T>A - - - CXorf59_000029 - PubMed: Liu 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.7295C>T r.(?) p.(Thr2432Ile) - VUS g.36254939C>T - CFAP47(NM_001304548.1):c.7295C>T (p.T2432I) - CXorf59_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7571T>C r.(?) p.(Leu2524Ser) - likely benign g.36298728T>C g.36280613T>C CFAP47(NM_001304548.1):c.7571T>C (p.L2524S) - CXorf59_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7573G>C r.(?) p.(Asp2525His) - VUS g.36298730G>C g.36280615G>C CFAP47(NM_001304548.1):c.7573G>C (p.D2525H) - CXorf59_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.7848C>G r.(?) p.(Gly2616=) - likely benign g.36317253C>G - CFAP47(NM_001304548.1):c.7848C>G (p.G2616=) - CXorf22_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8026C>G r.(?) p.(Gln2676Glu) - VUS g.36322019C>G g.36303904C>G CFAP47(NM_001304548.1):c.8026C>G (p.Q2676E) - CXorf59_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8062G>C r.(?) p.(Asp2688His) - likely benign g.36322055G>C g.36303940G>C CFAP47(NM_001304548.1):c.8062G>C (p.D2688H) - CXorf59_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8246C>T r.(?) p.(Thr2749Met) - VUS g.36329006C>T g.36310891C>T CXorf30(NM_001098843.4):c.584C>T (p.(Thr195Met)) - CXorf30_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.8462A>C r.(?) p.(Lys2821Thr) - VUS g.36366262A>C - CFAP47(NM_001304548.1):c.8462A>C (p.K2821T) - CXorf59_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.8540C>T r.(?) p.(Thr2847Met) - likely benign g.36366340C>T g.36348225C>T CFAP47(NM_001304548.1):c.8540C>T (p.T2847M) - CXorf59_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.8617G>A r.(?) p.(Asp2873Asn) - VUS g.36368166G>A g.36350051G>A CXorf30(NM_001098843.4):c.955G>A (p.(Asp319Asn)) - CXorf30_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.8668C>A r.(?) p.(Pro2890Thr) - pathogenic g.36368217C>A - - - CXorf59_000029 - PubMed: Liu 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.9018A>G r.(?) p.(Pro3006=) - likely benign g.36379611A>G - CFAP47(NM_001304548.1):c.9018A>G (p.P3006=) - CXorf59_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.9076C>T r.(?) p.(Pro3026Ser) - likely benign g.36385133C>T g.36367018C>T CXorf30(NM_001098843.4):c.1414C>T (p.(Pro472Ser)) - CXorf30_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 2 - c.9121G>A r.(?) p.(Asp3041Asn) - benign, VUS g.36385178G>A g.36367063G>A CFAP47(NM_001304548.1):c.9121G>A (p.D3041N), CXorf30(NM_001098843.4):c.1459G>A (p.(Asp487Asn)) - CXorf30_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.9203C>T r.(?) p.(Thr3068Ile) - VUS g.36397482C>T g.36379367C>T CXorf30(NM_001098843.4):c.1541C>T (p.(Thr514Ile)) - CXorf30_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 2 - c.9463A>G r.(?) p.(Met3155Val) - benign, VUS g.36403020A>G g.36384905A>G CFAP47(NM_001304548.1):c.9463A>G (p.M3155V), CXorf30(NM_001098843.4):c.1801A>G (p.(Met601Val)) - CXorf30_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.9491G>A r.(?) p.(Arg3164His) - VUS g.36403048G>A g.36384933G>A CFAP47(NM_001304548.1):c.9491G>A (p.R3164H) - CXorf30_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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