Full data view for gene STARD8

Information The variants shown are described using the NM_014725.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-8G>A r.(?) p.(=) Unknown - VUS g.67932827G>A g.68712985G>A STARD8(NM_001142503.2):c.151G>A (p.E51K) - STARD8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.279C>T r.(?) p.(=) Parent #1 - likely benign g.67937275C>T g.68717433C>T P93P - STARD8_000020 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline - 12/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 12 Lucy Raymond
-?/. - c.298A>G r.(?) p.(Ser100Gly) Unknown - likely benign g.67937294A>G g.68717452A>G STARD8(NM_001142503.2):c.538A>G (p.(Ser180Gly)) - STARD8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310C>T r.(?) p.(Arg104Trp) Unknown - likely benign g.67937306C>T - STARD8(NM_001142503.2):c.550C>T (p.R184W) - STARD8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604C>A r.(?) p.(Pro202Thr) Unknown - likely benign g.67937600C>A - STARD8(NM_001142503.2):c.844C>A (p.P282T) - STARD8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641G>A r.(?) p.(Arg214Gln) Unknown - VUS g.67937637G>A - STARD8(NM_001142503.2):c.881G>A (p.R294Q) - STARD8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.678A>C r.(?) p.(Lys226Asn) Parent #1 - VUS g.67937674A>C g.68717832A>C K226N - STARD8_000021 found once, nonrecurrent change 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.728A>G r.(?) p.(Asp243Gly) Unknown - VUS g.67937724A>G g.68717882A>G STARD8(NM_001142503.2):c.968A>G (p.(Asp323Gly)) - STARD8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.733C>T r.(?) p.(His245Tyr) Unknown - likely benign g.67937729C>T g.68717887C>T STARD8(NM_001142503.2):c.973C>T (p.H325Y) - STARD8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.764G>A r.(?) p.(Arg255Gln) Unknown - likely benign g.67937760G>A g.68717918G>A STARD8(NM_001142503.2):c.1004G>A (p.R335Q) - STARD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.803C>T r.(?) p.(Thr268Met) Unknown - likely benign g.67937799C>T - STARD8(NM_001142503.2):c.1043C>T (p.T348M) - STARD8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.980G>A r.(?) p.(Arg327Gln) Parent #1 - VUS g.67937976G>A g.68718134G>A R327Q - STARD8_000022 recurrent, found 15 times PubMed: Tarpey 2009 - - Germline - 15/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 15 Lucy Raymond
-?/. - c.1026G>A r.(?) p.(Glu342=) Unknown - likely benign g.67938022G>A g.68718180G>A STARD8(NM_001142503.2):c.1266G>A (p.E422=) - STARD8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Pro367Leu) Unknown - likely benign g.67938096C>T g.68718254C>T STARD8(NM_001142503.2):c.1340C>T (p.P447L) - STARD8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1208A>G r.(?) p.(Glu403Gly) Unknown - likely benign g.67938204A>G g.68718362A>G STARD8(NM_001142503.2):c.1448A>G (p.E483G) - STARD8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1232C>T r.(?) p.(Pro411Leu) Unknown - likely benign g.67938228C>T g.68718386C>T STARD8(NM_001142503.2):c.1472C>T (p.(Pro491Leu)) - STARD8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.1273G>A r.(?) p.(Gly425Arg) Parent #1 - VUS g.67938269G>A g.68718427G>A G425R - STARD8_000023 recurrent, found 2 times 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.1310_1312del r.(?) p.(Glu437del) Unknown - VUS g.67938306_67938308del g.68718464_68718466del STARD8(NM_001142503.2):c.1546_1548del (p.(Glu516del)) - STARD8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1381G>A r.(?) p.(Ala461Thr) Unknown - likely benign g.67938377G>A g.68718535G>A STARD8(NM_001142503.2):c.1621G>A (p.A541T) - STARD8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432C>T r.(?) p.(Arg478Trp) Unknown - VUS g.67938428C>T g.68718586C>T STARD8(NM_001142503.2):c.1672C>T (p.R558W) - STARD8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1732G>A r.(?) p.(Val578Met) Unknown - VUS g.67940188G>A g.68720346G>A STARD8(NM_001142503.2):c.1972G>A (p.V658M) - STARD8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1738C>T r.(?) p.(Arg580Cys) Maternal (inferred) - VUS g.67940194C>T g.68720352C>T - - STARD8_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1738C>T r.(?) p.(Arg580Cys) Maternal (inferred) - VUS g.67940194C>T g.68720352C>T - - STARD8_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1790G>A r.(?) p.(Arg597His) Unknown - likely benign g.67940246G>A g.68720404G>A STARD8(NM_001142503.2):c.2030G>A (p.R677H) - STARD8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2124C>T r.(?) p.(Ala708=) Unknown - likely benign g.67941493C>T g.68721651C>T STARD8(NM_001142503.2):c.2364C>T (p.A788=) - STARD8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2143G>A r.(?) p.(Ala715Thr) Unknown - VUS g.67941512G>A g.68721670G>A STARD8(NM_001142503.2):c.2383G>A (p.A795T) - STARD8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2175C>T r.(?) p.(Ser725=) Unknown - likely benign g.67941544C>T - STARD8(NM_001142503.2):c.2415C>T (p.S805=) - STARD8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.2248A>C r.(?) p.(=) Parent #1 - likely benign g.67941917A>C g.68722075A>C R750R - STARD8_000024 found once, nonrecurrent change 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.2270G>A r.(?) p.(Ser757Asn) Unknown - VUS g.67941939G>A g.68722097G>A STARD8(NM_001142503.2):c.2510G>A (p.(Ser837Asn)) - STARD8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2564C>T r.(?) p.(Pro855Leu) Unknown - VUS g.67943472C>T g.68723630C>T STARD8(NM_001142503.2):c.2804C>T (p.(Pro935Leu)) - STARD8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2650C>T r.(?) p.(Arg884Trp) Unknown - VUS g.67943558C>T g.68723716C>T STARD8(NM_001142503.2):c.2890C>T (p.(Arg964Trp)) - STARD8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2738G>A r.(?) p.(Ser913Asn) Unknown - VUS g.67943646G>A - STARD8(NM_001142503.2):c.2978G>A (p.S993N) - STARD8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2761G>A r.(?) p.(Asp921Asn) Unknown - likely benign g.67943669G>A g.68723827G>A STARD8(NM_001142503.2):c.3001G>A (p.(Asp1001Asn)) - STARD8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2984T>C r.(?) p.(Val995Ala) Unknown - VUS g.67944176T>C g.68724334T>C STARD8(NM_001142503.2):c.3224T>C (p.V1075A) - STARD8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1156_*1157del r.(=) p.(=) Unknown - VUS g.67945420_67945421del g.68725578_68725579del - - STARD8_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1176_*1177del r.(=) p.(=) Unknown - VUS g.67945440_67945441del g.68725598_68725599del - - STARD8_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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