All variants in the KLHL15 gene

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

29 entries on 1 page. Showing entries 1 - 29.
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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.-209-4C>T r.spl? p.? - likely benign g.24043179G>A g.24025062G>A KLHL15(NM_030624.2):c.-209-4C>T - KLHL15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-7-42_705+50del r.? p.? ACMG likely pathogenic g.24024056_24024859del g.24005939_24006742del - - KLHL15_000031 ACMG: PVS1, PM2_SUP - - - Germline ? - - 0 - Andreas Laner
+?/. - c.30_33del r.(?) p.(Ile12Thrfs*52) - likely pathogenic g.24024779_24024782del - - - KLHL15_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.72G>A r.(?) p.(Leu24=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.198A>G r.(?) p.(Glu66=) - likely benign g.24024613T>C - KLHL15(NM_030624.2):c.198A>G (p.E66=) - KLHL15_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.300C>A r.(?) p.(Thr100=) - likely benign g.24024511G>T - KLHL15(NM_030624.2):c.300C>A (p.T100=) - KLHL15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.301G>A r.(?) p.(Val101Ile) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.306T>G r.(?) p.(His102Gln) - likely benign g.24024505A>C - KLHL15(NM_030624.2):c.306T>G (p.H102Q) - KLHL15_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.377C>G r.(?) p.(Ala126Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.417C>G r.(?) p.(Leu139=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.429C>T r.(?) p.(Phe143=) - likely benign g.24024382G>A - KLHL15(NM_030624.2):c.429C>T (p.F143=) - KLHL15_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.445G>A r.(?) p.(Gly149Arg) - VUS g.24024366C>T - KLHL15(NM_030624.2):c.445G>A (p.G149R) - KLHL15_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.571A>G r.(?) p.(Arg191Gly) - VUS g.24024240T>C g.24006123T>C KLHL15(NM_030624.2):c.571A>G (p.R191G) - KLHL15_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.601G>T r.(?) p.(Val201Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.716_721del r.(?) p.(Ser239_Glu240del) - VUS g.24007134_24007139del g.23989017_23989022del 716_721delCAGAAT - KLHL15_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.820C>T r.(?) p.(Arg274Cys) - VUS g.24007033G>A g.23988916G>A - - KLHL15_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.843A>C r.(?) p.(Gln281His) - VUS g.24007010T>G - KLHL15(NM_030624.2):c.843A>C (p.Q281H) - KLHL15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1149C>T r.(?) p.(Ala383=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1176T>C r.(?) p.(Thr392=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 4 c.(1180del) r.(?) p.(Tyr394Ilefs*61) - pathogenic (recessive) g.24006673del g.23988556del Tyr394Ilefs*61 - KLHL15_000011 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.1301T>A r.(?) p.(Ile434Asn) - VUS g.24006552A>T - KLHL15(NM_030624.2):c.1301T>A (p.I434N) - KLHL15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1474G>A r.(?) p.(Val492Ile) - pathogenic g.24006379C>T g.23988262C>T NM_030624: c.G1474A; p.V492I - KLHL15_000006 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1552G>C r.(?) p.(Glu518Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1730G>A r.(?) p.(Arg577Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1779G>A r.(=) p.(=) - VUS g.24006074C>T g.23987957C>T P593P - KLHL15_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.*3530del r.(=) p.(=) - VUS g.24002510del g.23984393del - - KLHL15_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*3530del r.(=) p.(=) - VUS g.24002510del g.23984393del - - KLHL15_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*3531del r.(=) p.(=) - VUS g.24002507del g.23984390del - - KLHL15_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*3531del r.(=) p.(=) - VUS g.24002507del g.23984390del - - KLHL15_000005 - - - - Germline - - - - - Yu Sun
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