Full data view for gene KLHL3

Information The variants shown are described using the NM_017415.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

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.-8645950_*13129263dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.332C>T r.(?) p.(Ala111Val) Unknown - VUS g.137034007G>A g.137698318G>A - - KLHL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471A>G r.(?) p.(Ala157=) Unknown - benign g.137028029T>C g.137692340T>C - - KLHL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.527-8dup r.(=) p.(=) Unknown - likely benign g.137013364dup - KLHL3(NM_017415.3):c.527-8dupT - KLHL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627A>G r.(?) p.(=) Unknown - likely benign g.137013243T>C - KLHL3(NM_017415.3):c.627A>G (p.S209=) - KLHL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.636+4T>A r.spl? p.? Unknown - likely benign g.137013230A>T - KLHL3(NM_017415.3):c.636+4T>A - KLHL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.719G>A r.(719G>A) p.(Arg240Gln) Both (homozygous) ACMG likely pathogenic g.136997638C>T g.137661949C>T - - KLHL3_000022 - - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES PHA2D - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.781A>G r.(?) p.(Asn261Asp) Unknown - likely benign g.136993942T>C g.137658253T>C KLHL3(NM_001257194.1):c.685A>G (p.(Asn229Asp)) - KLHL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.827A>G r.(?) p.(His276Arg) Paternal (inferred) ACMG likely pathogenic g.136993896T>C g.137658207T>C - - KLHL3_000021 - - - - De novo - - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.838C>T r.(?) p.(Leu280=) Unknown - likely benign g.136993885G>A - KLHL3(NM_017415.3):c.838C>T (p.L280=) - KLHL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903+16A>G r.(=) p.(=) Unknown - likely benign g.136993804T>C - KLHL3(NM_017415.3):c.903+16A>G - KLHL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-5C>T r.spl? p.? Unknown - likely benign g.136975671G>A - KLHL3(NM_017415.3):c.904-5C>T - KLHL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.994A>G r.(?) p.(Ile332Val) Unknown - likely pathogenic g.94373338A>G g.92613581A>G KIF11 c.994A>G, p.(Ile332Val) - KIF11_000162 heterozygous; also affected mother PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 298_II:1 PubMed: Chen 2020 proband, family 298, individual II:1 M - China Chinese - - - - 1 LOVD
+?/. - c.994A>G r.(?) p.(Ile332Val) Unknown - likely pathogenic g.94373338A>G g.92613581A>G KIF11 c.994A>G, p.(Ile332Val) - KIF11_000162 heterozygous; also affected mother PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 298_I:2 PubMed: Chen 2020 mother, family 298, individual I:2 F - China Chinese - - - - 1 LOVD
-?/. - c.1021+5G>A r.spl? p.? Unknown - likely benign g.136975544C>T - KLHL3(NM_017415.3):c.1021+5G>A - KLHL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1156A>G r.(?) p.(Thr386Ala) Unknown - pathogenic g.136974705T>C - - - KLHL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1220-12C>T r.(=) p.(=) Unknown - likely benign g.136973096G>A - KLHL3(NM_017415.3):c.1220-12C>T - KLHL3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1229C>T r.(?) p.(Ser410Leu) Maternal (confirmed) ACMG pathogenic g.136973075G>A g.137637386G>A - - KLHL3_000020 - - 30517 rs199469641 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1321+20C>T r.(=) p.(=) Unknown - likely benign g.136972963G>A - KLHL3(NM_017415.3):c.1321+20C>T - KLHL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1383G>A r.(?) p.(Glu461=) Unknown - benign g.136969793C>T g.137634104C>T - - KLHL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439G>A r.(?) p.(Arg480His) Unknown - VUS g.136969737C>T g.137634048C>T - - KLHL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1480G>T r.(?) p.(Ala494Ser) Unknown - likely pathogenic g.136964097C>A g.137628408C>A - - KLHL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1583G>A r.(?) p.(Arg528His) Unknown - pathogenic g.136963994C>T - - - KLHL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1611G>T r.(=) p.(=) Parent #1 - benign g.136961566C>A g.137625877C>A - - KLHL3_000008 92 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17171525 Germline - 92/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 92 Mohammed Faruq
-/. - c.1611G>T r.(=) p.(=) Both (homozygous) - benign g.136961566C>A g.137625877C>A - - KLHL3_000008 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17171525 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.