All variants in the EFHC2 gene

Information The variants shown are described using the NM_025184.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     
?/. 1 c.-60_-56= r.(=) p.(=) - VUS g.44202891dup g.44343645dup - - EFHC2_000011 - - - - Germline - - - 0 - Yu Sun
?/. 1 c.-60_-56= r.(=) p.(=) - VUS g.44202891dup g.44343645dup - - EFHC2_000011 - - - - Germline - - - 0 - Yu Sun
?/. 1 c.-60_-56= r.(=) p.(=) - VUS g.44202891dup g.44343645dup - - EFHC2_000011 - - - - Germline - - - 0 - Yu Sun
-?/. - c.21G>A r.(?) p.(Pro7=) - likely benign g.44202814C>T - EFHC2(NM_025184.3):c.21G>A (p.P7=) - EFHC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.92A>G r.(?) p.(Asn31Ser) - VUS g.44171953T>C g.44312707T>C - - EFHC2_000004 - - - - Germline - - - 0 - Yu Sun
?/. 2 c.92A>G r.(?) p.(Asn31Ser) - VUS g.44171953T>C g.44312707T>C - - EFHC2_000004 - - - - Germline - - - 0 - Yu Sun
-?/? 2 c.92A>G r.(?) p.(Asn31Ser) - likely benign g.44171953T>C g.44312707T>C - - EFHC2_000004 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 families - 0 - Lucy Raymond
?/? 2 c.170G>A r.(?) p.(Cys57Tyr) - VUS g.44171875C>T g.44312629C>T - - EFHC2_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - 0 - Lucy Raymond
-?/. - c.170G>A r.(?) p.(Cys57Tyr) - likely benign g.44171875C>T g.44312629C>T EFHC2(NM_025184.3):c.170G>A (p.(Cys57Tyr)) - EFHC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.192T>G r.(?) p.(Asp64Glu) - likely benign g.44171853A>C g.44312607A>C EFHC2(NM_025184.3):c.192T>G (p.D64E) - EFHC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 9 c.231+246A>G r.(?) p.(=) - VUS g.44171568T>C g.44312322T>C - - EFHC2_000009 - - - - Germline - - - 0 - Yu Sun
?/. 2i c.231+246A>G r.(?) p.(=) - VUS g.44171568T>C g.44312322T>C - - EFHC2_000009 - - - - Germline - - - 0 - Yu Sun
+/? 4 c.404G>A r.(?) p.(Arg135Gln) - pathogenic g.44120523C>T g.44261277C>T 403G>A - EFHC2_000005 not in 300 control chromosomes PubMed: de Brouwer 2007 - - Germline yes 1/193 families - 0 - Johan den Dunnen
?/. - c.404G>A r.(?) p.(Arg135Gln) - VUS g.44120523C>T g.44261277C>T EFHC2(NM_025184.3):c.404G>A (p.(Arg135Gln)) - EFHC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.416C>T r.(?) p.(Pro139Leu) - VUS g.44120511G>A - EFHC2(NM_025184.3):c.416C>T (p.P139L) - EFHC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.417G>A r.(?) p.(Pro139=) - likely benign g.44120510C>T g.44261264C>T EFHC2(NM_025184.3):c.417G>A (p.P139=) - EFHC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.625C>T r.(?) p.(Pro209Ser) - VUS g.44109673G>A g.44250427G>A EFHC2(NM_025184.3):c.625C>T (p.P209S, p.(Pro209Ser)) - EFHC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.625C>T r.(?) p.(Pro209Ser) - VUS g.44109673G>A g.44250427G>A EFHC2(NM_025184.3):c.625C>T (p.P209S, p.(Pro209Ser)) - EFHC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.632G>A r.(?) p.(Arg211His) - likely benign g.44109666C>T g.44250420C>T EFHC2(NM_025184.3):c.632G>A (p.R211H) - EFHC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1132T>C r.(?) p.(Cys378Arg) - VUS g.44101515A>G g.44242269A>G EFHC2(NM_025184.3):c.1132T>C (p.C378R) - EFHC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 9 c.1289C>A r.(?) p.(Ser430Tyr) - VUS g.44094685G>T g.44235439G>T - - EFHC2_000001 - - - - Germline - - - 0 - Yu Sun
?/. 9 c.1289C>A r.(?) p.(Ser430Tyr) - VUS g.44094685G>T g.44235439G>T - - EFHC2_000001 - - - - Germline - - - 0 - Yu Sun
-?/? 9 c.1289C>A r.(?) p.(Ser430Tyr) - likely benign g.44094685G>T g.44235439G>T - - EFHC2_000001 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 families - 0 - Lucy Raymond
-?/. - c.1356G>A r.(?) p.(Met452Ile) - likely benign g.44094618C>T g.44235372C>T EFHC2(NM_025184.3):c.1356G>A (p.M452I) - EFHC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1516G>A r.(?) p.(Glu506Lys) - likely benign g.44091831C>T g.44232585C>T EFHC2(NM_025184.3):c.1516G>A (p.E506K) - EFHC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 10 c.1519G>C r.(?) p.(Glu507Gln) - VUS g.44091828C>G g.44232582C>G - - EFHC2_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - 0 - Lucy Raymond
?/. 10i c.1620+178G>A r.(?) p.(=) - VUS g.44091549C>T g.44232303C>T - - EFHC2_000008 - - - - Germline - - - 0 - Yu Sun
?/. 10i c.1620+178G>A r.(?) p.(=) - VUS g.44091549C>T g.44232303C>T - - EFHC2_000008 - - - - Germline - - - 0 - Yu Sun
-?/. - c.1641A>G r.(?) p.(Lys547=) - likely benign g.44089005T>C g.44229759T>C EFHC2(NM_025184.3):c.1641A>G (p.K547=) - EFHC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 11i c.1751+336C>T r.(?) p.(=) - VUS g.44088559G>A g.44229313G>A - - EFHC2_000006 - - - - Germline - - - 0 - Yu Sun
?/. 11i c.1751+336C>T r.(?) p.(=) - VUS g.44088559G>A g.44229313G>A - - EFHC2_000006 - - - - Germline - - - 0 - Yu Sun
?/. 12 c.1901A>G r.(?) p.(Glu634Gly) - VUS g.44037661T>C g.44178415T>C - - EFHC2_000025 - 0 - rs1209679571 Germline - - - 0 - LOVD
?/. 14i c.2149-220A>G r.(?) p.(=) - VUS g.44008362T>C g.44149116T>C - - EFHC2_000007 - - - - Germline - - - 0 - Yu Sun
?/. 14i c.2149-220A>G r.(?) p.(=) - VUS g.44008362T>C g.44149116T>C - - EFHC2_000007 - - - - Germline - - - 0 - Yu Sun
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