Full data view for gene MORC4

Information The variants shown are described using the NM_024657.4 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.102G>C r.(?) p.(Thr34=) Unknown - VUS g.106243098C>G g.106999868C>G MORC4(NM_001085354.2):c.102G>C (p.?) - MORC4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.318T>C r.(?) p.(Phe106=) Unknown - likely benign g.106229421A>G - MORC4(NM_024657.5):c.318T>C (p.F106=) - MORC4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431G>T r.(?) p.(Gly144Val) Unknown - VUS g.106229308C>A - MORC4(NM_024657.5):c.431G>T (p.G144V) - MORC4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.446A>G r.(?) N149S Parent #1 - VUS g.106229293T>C - N149S - MORC4_000012 recurrent, found 4 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
?/. 4 c.508G>A r.(?) V170M Parent #1 - VUS g.106229231C>T - V170M - MORC4_000011 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.736G>T r.(?) p.(Asp246Tyr) Unknown - VUS g.106224646C>A - MORC4(NM_024657.5):c.736G>T (p.D246Y) - MORC4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039G>A r.(?) p.(Val347Met) Unknown - likely benign g.106221327C>T g.106978097C>T MORC4(NM_024657.5):c.1039G>A (p.V347M) - MORC4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1059A>C r.(?) p.(Pro353=) Unknown - VUS g.106219912T>G g.106976682T>G MORC4(NM_001085354.2):c.1059A>C (p.(=)) - MORC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1386-3C>T r.spl? p.? Unknown - likely benign g.106200237G>A g.106957007G>A MORC4(NM_024657.5):c.1386-3C>T - MORC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1481_1483dup r.(?) p.(Lys494dup) Unknown - likely benign g.106199745_106199747dup g.106956515_106956517dup MORC4(NM_001085354.2):c.1483_1484insAGA (p.(Lys494dup)) - MORC4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556G>A r.(?) p.(Gly519Glu) Unknown - likely benign g.106198272C>T - MORC4(NM_024657.5):c.1556G>A (p.G519E) - MORC4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1639G>A r.(?) A547T Parent #1 - VUS g.106198189C>T - A547T - MORC4_000010 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1740G>T r.(?) p.(Gln580His) Unknown - likely benign g.106186381C>A g.106943151C>A MORC4(NM_024657.5):c.1740G>T (p.Q580H) - MORC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1766A>G r.(?) p.(Asp589Gly) Unknown - VUS g.106186355T>C - MORC4(NM_024657.5):c.1766A>G (p.D589G) - MORC4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1794G>C r.(?) p.(Arg598Ser) Unknown - likely benign g.106186327C>G g.106943097C>G MORC4(NM_001085354.2):c.1794G>C (p.(Arg598Ser)) - MORC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.106186164G>A g.106942934G>A MORC4(NM_001085354.2):c.1957C>T (p.(Arg653Cys)) - MORC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2170G>A r.(?) p.(Ala724Thr) Unknown - likely benign g.106185951C>T g.106942721C>T MORC4(NM_001085354.2):c.2170G>A (p.(Ala724Thr)) - MORC4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2458C>T r.(?) p.(Gln820Ter) Unknown - VUS g.106185370G>A g.106942140G>A MORC4(NM_001085354.2):c.2458C>T (p.(Gln820Ter)) - MORC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2743A>G r.(?) p.(Ile915Val) Unknown - likely benign g.106184780T>C g.106941550T>C MORC4(NM_001085354.2):c.*2A>G (p.(=)) - MORC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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