All variants in the CAPN6 gene

Information The variants shown are described using the NM_014289.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.165+310T>C r.(=) p.(=) - VUS g.110506690A>G g.111263462A>G - - CAPN6_000002 - - - - Germline - - - - - Yu Sun
-?/. - c.177T>C r.(?) p.(Asp59=) - likely benign g.110497620A>G - CAPN6(NM_014289.3):c.177T>C (p.D59=) - CAPN6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.186T>A r.(?) p.(His62Gln) - VUS g.110497611A>T g.111254383A>T CAPN6(NM_014289.3):c.186T>A (p.H62Q, p.(His62Gln)) - CAPN6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.186T>A r.(?) p.(His62Gln) - likely benign g.110497611A>T g.111254383A>T CAPN6(NM_014289.3):c.186T>A (p.H62Q, p.(His62Gln)) - CAPN6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.432C>T r.(=) p.(=) - likely benign g.110496310G>A g.111253082G>A N144N - CAPN6_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.469G>C r.(?) p.(Glu157Gln) - VUS g.110496273C>G - CAPN6(NM_014289.3):c.469G>C (p.E157Q) - CAPN6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.787C>T r.(?) p.(Arg263Cys) - VUS g.110494883G>A - CAPN6(NM_014289.3):c.787C>T (p.R263C) - CAPN6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.808G>A r.(?) p.(Glu270Lys) - likely benign g.110494862C>T g.111251634C>T CAPN6(NM_014289.3):c.808G>A (p.E270K) - CAPN6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.829G>C r.(?) p.(Val277Leu) - VUS g.110494841C>G g.111251613C>G - - CAPN6_000015 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - Lucy Raymond
?/. - c.894-24_894-23insC r.(=) p.(=) - VUS g.110494537_110494538insG g.111251309_111251310insG - - CAPN6_000006 - - - - Germline - - - - - Yu Sun
?/. - c.894-15dup r.(=) p.(=) - VUS g.110494542dup g.111251314dup - - CAPN6_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1026T>C r.(=) p.(=) - likely benign g.110494277A>G g.111251049A>G N342N - CAPN6_000014 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - 0 - Lucy Raymond
?/. - c.1295G>A r.(?) p.(Arg432His) - VUS g.110491986C>T g.111248758C>T CAPN6(NM_014289.3):c.1295G>A (p.R432H) - CAPN6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1449C>T r.(=) p.(=) - likely benign g.110491832G>A g.111248604G>A L483L - CAPN6_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1493C>T r.(?) p.(Thr498Ile) - VUS g.110491212G>A g.111247984G>A - - CAPN6_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.1493C>T r.(?) p.(Thr498Ile) - benign g.110491212G>A g.111247984G>A CAPN6(NM_014289.4):c.1493C>T (p.T498I) - CAPN6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1598C>A r.(?) p.(Ala533Asp) - likely benign g.110491107G>T g.111247879G>T CAPN6(NM_014289.3):c.1598C>A (p.A533D) - CAPN6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*285T>C - p.(=) - VUS g.110489520A>G g.111246292A>G - - CAPN6_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.*285T>C - p.(=) - VUS g.110489520A>G g.111246292A>G - - CAPN6_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
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