All variants in the CNTN2 gene

Information The variants shown are described using the NM_005076.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
-?/. - c.105C>T r.(?) p.(Phe35=) - likely benign g.205027083C>T g.205057955C>T CNTN2(NM_005076.4):c.105C>T (p.F35=) - CNTN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.158C>T r.(?) p.(Thr53Met) - likely benign g.205027136C>T - CNTN2(NM_005076.4):c.158C>T (p.T53M) - CNTN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.487+10G>A r.(=) p.(=) - likely benign g.205027801G>A g.205058673G>A CNTN2(NM_005076.4):c.487+10G>A - CNTN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.504del r.(?) p.(Trp168Cysfs*163) - pathogenic (recessive) g.205028228del g.205059100del 503_503delG - CNTN2_000005 - PubMed: Stogmann 2013 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.505C>T r.(?) p.(Leu169Phe) - VUS g.205028229C>T g.205059101C>T CNTN2(NM_005076.4):c.505C>T (p.L169F) - CNTN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1372A>G r.(?) p.(Ile458Val) - VUS g.205033581A>G g.205064453A>G - - CNTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1460C>T r.(?) p.(Thr487Ile) - VUS g.205033819C>T g.205064691C>T - - CNTN2_000006 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs116647440 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-/. - c.1969C>T r.(?) p.(Arg657Trp) - benign g.205035721C>T g.205066593C>T - - CNTN2_000007 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs2305276 Germline - 5/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1975A>G r.(?) p.(Asn659Asp) - likely benign g.205035727A>G g.205066599A>G CNTN2(NM_005076.3):c.1975A>G (p.(Asn659Asp)) - CNTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1975A>G r.(?) p.(Asn659Asp) - benign g.205035727A>G g.205066599A>G - - CNTN2_000004 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41264871 Germline - 11/2792 individuals - 0 - Mohammed Faruq
?/. - c.2155G>A r.(?) p.(Gly719Arg) - VUS g.205038648G>A g.205069520G>A CNTN2(NM_005076.4):c.2155G>A (p.G719R) - CNTN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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