All transcript variants in gene CCND2

Information The variants shown are described using the NM_001759.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
Legend  

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.406C>G r.(?) p.(Leu136Val) - VUS g.4385381C>G g.4276215C>G CCND2(NM_001759.3):c.406C>G (p.L136V) - CCND2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.455C>A r.(?) p.(Ala152Glu) - VUS g.4387969C>A g.4278803C>A CCND2(NM_001759.3):c.455C>A (p.A152E) - CCND2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.455C>A r.(?) p.(Ala152Glu) - VUS g.4387969C>A g.4278803C>A CCND2(NM_001759.3):c.455C>A (p.A152E) - CCND2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.606C>T r.(?) p.(Ile202=) - likely benign g.4398042C>T g.4288876C>T CCND2(NM_001759.3):c.606C>T (p.I202=) - CCND2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.720+7G>A r.(=) p.(=) - likely benign g.4398163G>A g.4288997G>A CCND2(NM_001759.3):c.720+7G>A - CCND2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.812C>A r.(?) p.(Ser271Ter) - pathogenic g.4409117C>A g.4299951C>A CCND2(NM_001759.3):c.812C>A (p.S271*) - CCND2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.829C>T r.(?) p.(Gln277*) - likely pathogenic g.4409134C>T g.4299968C>T - - CCND2_000008 - - - - Unknown - - - 0 - IMGAG
+/. - c.841C>G r.(?) p.(Pro281Ala) ACMG pathogenic (dominant) g.4409146C>G g.4299980C>G - - CCND2_000009 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.841C>T r.(?) p.(Pro281Ser) - likely pathogenic g.4409146C>T - CCND2(NM_001759.3):c.841C>T (p.P281S) - CCND2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.850G>A r.(?) p.(Val284Met) - VUS g.4409155G>A g.4299989G>A CCND2(NM_001759.3):c.850G>A (p.(Val284Met)) - CCND2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.860T>G r.(?) p.(Ile287Ser) - VUS g.4409165T>G g.4299999T>G CCND2(NM_001759.3):c.860T>G (p.I287S) - CCND2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.860T>G r.(?) p.(Ile287Ser) - VUS g.4409165T>G g.4299999T>G CCND2(NM_001759.3):c.860T>G (p.I287S) - CCND2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend