Full data view for gene KLHL15

Information The variants shown are described using the NM_030624.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-209-4C>T r.spl? p.? Unknown - likely benign g.24043179G>A g.24025062G>A KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T - KLHL15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-209-4C>T r.spl? p.? Unknown - likely benign g.24043179G>A g.24025062G>A KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T - KLHL15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-209-4C>T r.spl? p.? Unknown - likely benign g.24043179G>A - KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T - KLHL15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-7-42_705+50del r.? p.? Maternal (inferred) ACMG likely pathogenic g.24024056_24024859del g.24005939_24006742del - - KLHL15_000031 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - XLID103 167926 - - M ? Germany - - - - - 1 Andreas Laner
+?/. - c.30_33del r.(?) p.(Ile12Thrfs*52) Unknown - likely pathogenic g.24024779_24024782del - - - KLHL15_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72G>A r.(?) p.(Leu24=) Unknown - likely benign g.24024739C>T g.24006622C>T KLHL15(NM_030624.2):c.72G>A (p.L24=) - KLHL15_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>G r.(?) p.(Glu66=) Unknown - likely benign g.24024613T>C - KLHL15(NM_030624.2):c.198A>G (p.E66=) - KLHL15_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>A r.(?) p.(Thr100=) Unknown - likely benign g.24024511G>T - KLHL15(NM_030624.2):c.300C>A (p.T100=) - KLHL15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Val101Ile) Unknown - VUS g.24024510C>T g.24006393C>T KLHL15(NM_030624.2):c.301G>A (p.V101I) - KLHL15_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306T>G r.(?) p.(His102Gln) Unknown - likely benign g.24024505A>C - KLHL15(NM_030624.2):c.306T>G (p.H102Q) - KLHL15_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377C>G r.(?) p.(Ala126Gly) Unknown - VUS g.24024434G>C g.24006317G>C KLHL15(NM_030624.2):c.377C>G (p.A126G) - KLHL15_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>G r.(?) p.(Leu139=) Unknown - likely benign g.24024394G>C g.24006277G>C KLHL15(NM_030624.2):c.417C>G (p.L139=) - KLHL15_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Phe143=) Unknown - likely benign g.24024382G>A - KLHL15(NM_030624.2):c.429C>T (p.F143=) - KLHL15_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Gly149Arg) Unknown - VUS g.24024366C>T - KLHL15(NM_030624.3):c.445G>A (p.G149R) - KLHL15_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571A>G r.(?) p.(Arg191Gly) Unknown - VUS g.24024240T>C g.24006123T>C KLHL15(NM_030624.3):c.571A>G (p.R191G) - KLHL15_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.601G>T r.(?) p.(Val201Leu) Unknown - VUS g.24024210C>A g.24006093C>A KLHL15(NM_030624.2):c.601G>T (p.V201L) - KLHL15_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676T>A r.(?) p.(Leu226Met) Unknown - VUS g.24024135A>T - KLHL15(NM_030624.2):c.676T>A (p.L226M) - KLHL15_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682A>T r.(?) p.(Thr228Ser) Unknown - VUS g.24024129T>A - KLHL15(NM_030624.3):c.682A>T (p.(Thr228Ser)) - KLHL15_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716_721del r.(?) p.(Ser239_Glu240del) Parent #1 - VUS g.24007134_24007139del g.23989017_23989022del 716_721delCAGAAT - KLHL15_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.820C>T r.(?) p.(Arg274Cys) Unknown - VUS g.24007033G>A g.23988916G>A - - KLHL15_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.843A>C r.(?) p.(Gln281His) Unknown - VUS g.24007010T>G - KLHL15(NM_030624.2):c.843A>C (p.Q281H) - KLHL15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850G>A r.(?) p.(Val284Ile) Unknown - VUS g.24007003C>T - KLHL15(NM_030624.2):c.850G>A (p.V284I) - KLHL15_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096T>G r.(?) p.(Ser366Ala) Unknown - VUS g.24006757A>C g.23988640A>C KLHL15(NM_030624.3):c.1096T>G (p.(Ser366Ala)) - KLHL15_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1149C>T r.(?) p.(Ala383=) Unknown - likely benign g.24006704G>A g.23988587G>A KLHL15(NM_030624.2):c.1149C>T (p.A383=) - KLHL15_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176T>C r.(?) p.(Thr392=) Unknown - likely benign g.24006677A>G g.23988560A>G KLHL15(NM_030624.2):c.1176T>C (p.T392=) - KLHL15_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.(1180del) r.(?) p.(Tyr394Ilefs*61) Maternal (confirmed) - pathogenic (recessive) g.24006673del g.23988556del Tyr394Ilefs*61 - KLHL15_000011 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD60 PubMed: Hu 2016 family, 8 affected, 4 unaffected heterozygous carrier females M - - - - - - - 8 Johan den Dunnen
?/. - c.1301T>A r.(?) p.(Ile434Asn) Unknown - VUS g.24006552A>T - KLHL15(NM_030624.3):c.1301T>A (p.I434N) - KLHL15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426T>C r.(?) p.(Tyr476His) Maternal (confirmed) ACMG VUS g.24006427A>G g.23988310A>G - - KLHL15_000035 ACMG: PM2_Sup, PP2 - - - Germline ? - - - - DNA SEQ-NG-I Blood - XLID103 273182 - - M ? Turkey - - - - - 1 Andreas Laner
?/. - c.1433G>C r.(?) p.(Arg478Thr) Unknown - VUS g.24006420C>G - KLHL15(NM_030624.2):c.1433G>C (p.(Arg478Thr)) - KLHL15_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1474G>A r.(?) p.(Val492Ile) Parent #1 - pathogenic g.24006379C>T g.23988262C>T NM_030624: c.G1474A; p.V492I - KLHL15_000006 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4633 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
?/. - c.1502G>A r.(?) p.(Arg501Lys) Unknown - VUS g.24006351C>T - - - KLHL15_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552G>C r.(?) p.(Glu518Gln) Unknown - likely benign g.24006301C>G g.23988184C>G KLHL15(NM_030624.2):c.1552G>C (p.E518Q) - KLHL15_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1730G>A r.(?) p.(Arg577Gln) Unknown - VUS g.24006123C>T g.23988006C>T KLHL15(NM_030624.2):c.1730G>A (p.R577Q) - KLHL15_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1779G>A r.(=) p.(=) Parent #1 - VUS g.24006074C>T g.23987957C>T P593P - KLHL15_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.*3530del r.(=) p.(=) Maternal (inferred) - VUS g.24002510del g.23984393del - - KLHL15_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*3530del r.(=) p.(=) Maternal (inferred) - VUS g.24002510del g.23984393del - - KLHL15_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*3531del r.(=) p.(=) Maternal (inferred) - VUS g.24002507del g.23984390del - - KLHL15_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*3531del r.(=) p.(=) Maternal (inferred) - VUS g.24002507del g.23984390del - - KLHL15_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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