Full data view for gene KLHL40

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_152393.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.25G>T r.(?) p.(Glu9*) Unknown - VUS g.42727135G>T - KLHL40(NM_152393.4):c.25G>T (p.(Glu9Ter)) - KLHL40_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.46C>T r.(?) p.(Gln16*) Both (homozygous) - pathogenic g.42727156C>T g.42685664C>T - - KLHL40_000025 - PubMed: Todd 2015 - - Germline - - - - - DNA PCR, SEQ - - NEM Fam16 PubMed: Todd 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Australia - - - - - 1 Gianina Ravenscroft
+/+ 1 c.100G>C r.(?) p.(Asp34His) Parent #1 - pathogenic g.42727210G>C g.42685718G>C - - KLHL40_000001 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 31 - ? Viet Nam Vietnamese - - - - 1 Gianina Ravenscroft
?/. - c.134C>T r.(?) p.(Pro45Leu) Unknown - VUS g.42727244C>T - KLHL40(NM_152393.4):c.134C>T (p.(Pro45Leu)) - KLHL40_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.134del r.(?) p.(Pro45Argfs*19) Both (homozygous) - pathogenic g.42727244del g.42685752del - - KLHL40_000002 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 2 - ? Italy Italian - - - - 1 Gianina Ravenscroft
?/. - c.238G>C r.(?) p.(Asp80His) Unknown - VUS g.42727348G>C g.42685856G>C KLHL40(NM_152393.3):c.238G>C (p.D80H) - KLHL40_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.257T>C r.(?) p.(Leu86Pro) Parent #2 - pathogenic g.42727367T>C g.42685875T>C - - KLHL40_000017 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 31 - ? Viet Nam Vietnamese - - - - 1 Gianina Ravenscroft
+/+ 1 c.270C>G r.(?) p.(Tyr90*) Both (homozygous) - pathogenic g.42727380C>G g.42685888C>G - - KLHL40_000003 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 3 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/. - c.313T>C r.(?) p.(Phe105Leu) Unknown - VUS g.42727423T>C g.42685931T>C KLHL40(NM_152393.3):c.313T>C (p.(Phe105Leu)) - KLHL40_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360C>A r.(?) p.(Cys120Ter) Unknown - pathogenic g.42727470C>A g.42685978C>A KLHL40(NM_152393.4):c.360C>A (p.C120*) - KLHL40_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.515T>C r.(?) p.(Leu172Pro) Parent #2 - likely pathogenic g.42727625T>C g.42686133T>C - - KLHL40_000041 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P84 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/+ 1 c.581T>A r.(?) p.(Val194Glu) Both (homozygous) - pathogenic g.42727691T>A g.42686199T>A - - KLHL40_000004 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 5 - ? Israel Israeli - - - - 1 Gianina Ravenscroft
+?/+? 1 c.601T>C r.(?) p.(Trp201Arg) Parent #1 - likely pathogenic g.42727711T>C g.42686219T>C - - KLHL40_000026 - - - - Germline - - - - - DNA SEQ-NG - - FADS - - previous child (now deceased) also affected M - United States white - - - - 1 Tom Winder
+/+ 1 c.602G>A r.(?) p.(Trp201*) Both (homozygous) - pathogenic g.42727712G>A g.42686220G>A - - KLHL40_000006 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 7 - ? Norway Norwegian - - - - 1 Gianina Ravenscroft
+/. - c.602G>A r.(?) p.(Trp201*) Both (homozygous) ACMG pathogenic (recessive) g.42727712G>A g.42686220G>A - - KLHL40_000006 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D16-1428 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/+ 1 c.602G>T r.(?) p.(Trp201Leu) Both (homozygous) - pathogenic g.42727712G>T g.42686220G>T - - KLHL40_000005 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 6 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
+?/. - c.604del r.(?) p.(Ala202ArgfsTer56) Parent #1 ACMG pathogenic (recessive) g.42727714del g.42686222del 604delG - KLHL40_000042 ACMG PVS1, PM2, PM3 PubMed: Natera-de Benito 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam58Pat64 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.648G>T r.(?) p.(Ala216=) Unknown - likely benign g.42727758G>T g.42686266G>T KLHL40(NM_152393.4):c.648G>T (p.A216=) - KLHL40_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.790del r.(?) p.(Arg264Alafs*59) Both (homozygous) - pathogenic g.42727900del g.42686408del - - KLHL40_000007 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 9 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/? 1 c.931C>A r.(?) p.(Arg311Ser) Both (homozygous) - VUS g.42728041C>A g.42686549C>A - - KLHL40_000028 - PubMed: Todd 2015 - - Germline yes - - - - DNA SEQ - - NEM8 Fam20 PubMed: Todd 2015 2-generation family, 1 affected, unaffected untested carrier parents M yes - - - - - - 1 Gianina Ravenscroft
+/+ 1 c.932G>T r.(?) p.(Arg311Leu) Paternal (confirmed) - pathogenic (recessive) g.42728042G>T g.42686550G>T - - KLHL40_000008 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM Family 10 PubMed: Ravenscroft 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? China Chinese - - - - 1 Gianina Ravenscroft
?/. - c.959T>C r.(?) p.(Ile320Thr) Unknown - VUS g.42728069T>C - KLHL40(NM_152393.4):c.959T>C (p.(Ile320Thr)) - KLHL40_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.1034A>G r.(?) p.(Asn345Ser) Unknown - benign g.42728144A>G g.42686652A>G - - KLHL40_000033 - - - rs6805421 Unknown ? 0.8 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
+?/. - c.1174T>C r.(?) p.(Trp392Arg) Parent #1 - likely pathogenic g.42729655T>C g.42688163T>C - - KLHL40_000043 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P84 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/? 2 c.1190C>T r.(?) p.(Pro397Leu) Parent #1 - pathogenic g.42729671C>T g.42688179C>T - - KLHL40_000009 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 34 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/. - c.1204C>T r.(?) p.(Arg402Cys) Unknown - VUS g.42729685C>T - KLHL40(NM_152393.4):c.1204C>T (p.(Arg402Cys)) - HHATL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246G>A r.(?) p.(Val416Met) Unknown - VUS g.42729727G>A - KLHL40(NM_152393.4):c.1246G>A (p.(Val416Met)) - HHATL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1270_1272delinsAGATCAAGGT r.(?) p.(Asp424Argfs*23) Parent #1 - pathogenic g.42729751_42729753delinsAGATCAAGGT g.42688259_42688261delinsAGATCAAGGT - - KLHL40_000010 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 12 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
?/. - c.1275C>T r.(?) p.(=) Unknown - VUS g.42729756C>T - KLHL40(NM_152393.4):c.1275C>T (p.(Gly425=)) - HHATL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1281_1294del r.(?) p.(Cys428Hisfs*12) Parent #1 - pathogenic g.42729762_42729775del g.42688270_42688283del 1281_1294delCTGCCTGGACTCGG - KLHL40_000011 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 13 - ? Korea Korean - - - - 1 Gianina Ravenscroft
?/. - c.1306G>A r.(?) p.(Asp436Asn) Unknown - VUS g.42729787G>A - KLHL40(NM_152393.4):c.1306G>A (p.(Asp436Asn)) - HHATL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1364A>G r.(?) p.(His455Arg) Both (homozygous) - pathogenic g.42730152A>G g.42688660A>G - - KLHL40_000012 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 14 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/. - c.1405G>A r.(?) p.(Gly469Ser) Paternal (confirmed) ACMG VUS g.42730193G>A g.42688701G>A - - KLHL40_000045 - PubMed: Gurgel-Giannetti 2022 - - Germline - - - - - DNA SEQ - - NEM Fam24Pat29 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - 1 Johan den Dunnen
?/. - c.1405G>A r.(?) p.(Gly469Ser) Parent #1 ACMG VUS g.42730193G>A g.42688701G>A - - KLHL40_000045 - PubMed: Gurgel-Giannetti 2022 - - Germline - - - - - DNA SEQ - - NEM Fam25Pat30 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - 1 Johan den Dunnen
+/+ 3 c.1405G>T r.(?) p.(Gly469Cys) Both (homozygous) - pathogenic g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 15 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 3 c.1405G>T r.(?) p.(Gly469Cys) Parent #1 - pathogenic g.42730193G>T g.42688701G>T - - KLHL40_000013 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 16 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+?/+? 3i c.1421+1G>T r.spl p.? Parent #2 - likely pathogenic g.42730210G>T g.42688718G>T - - KLHL40_000027 - - - - Germline - - - - - DNA SEQ-NG - - FADS - - previous child (now deceased) also affected M - United States white - - - - 1 Tom Winder
-?/. - c.1421+9G>A r.(=) p.(=) Unknown - likely benign g.42730218G>A - KLHL40(NM_152393.4):c.1421+9G>A - HHATL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427G>A r.(?) p.(Cys476Tyr) Unknown - VUS g.42730366G>A - KLHL40(NM_152393.4):c.1427G>A (p.(Cys476Tyr)) - HHATL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1495G>A r.(?) p.(Ala499Thr) Parent #1 - likely benign g.42730434G>A g.42688942G>A - - KLHL40_000038 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148921329 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1498C>T r.(?) p.(Arg500Cys) Maternal (confirmed) ACMG VUS g.42730437C>T g.42688945C>T - - KLHL40_000046 - PubMed: Gurgel-Giannetti 2022 - - Germline - - - - - DNA SEQ - - NEM Fam24Pat29 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - 1 Johan den Dunnen
?/. - c.1498C>T r.(?) p.(Arg500Cys) Parent #2 ACMG VUS g.42730437C>T g.42688945C>T - - KLHL40_000046 - PubMed: Gurgel-Giannetti 2022 - - Germline - - - - - DNA SEQ - - NEM Fam25Pat30 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.1513G>C r.(?) p.(Ala505Pro) Parent #2 ACMG VUS g.42730452G>C g.42688960G>C - - KLHL40_000044 ACMG PM2, PM3, PP3 PubMed: Natera-de Benito 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam58Pat64 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - 1 Johan den Dunnen
+/+ 4 c.1516A>C r.(?) p.(Thr506Pro) Maternal (confirmed) - pathogenic (recessive) g.42730455A>C g.42688963A>C - - KLHL40_000022 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM Family 10 PubMed: Ravenscroft 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? China Chinese - - - - 1 Gianina Ravenscroft
+/. 4 c.1516A>C r.(?) p.(Thr506Pro) Both (homozygous) ACMG pathogenic (recessive) g.42730455A>C g.42688963A>C - - KLHL40_000022 ACMG PM3_VS, PM2, PP3 PubMed: Mao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC G036-1 PubMed: Mao 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
-?/. - c.1540G>A r.(?) p.(Val514Met) Unknown - likely benign g.42730479G>A - KLHL40(NM_152393.4):c.1540G>A (p.V514M) - HHATL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM Family 17 PubMed: Ravenscroft 2013 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey Turkish - - - - 2 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 18 - ? - Kurdish - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 19 - ? - Kurdish - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 20 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 21 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 22 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 23 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 24 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 25 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 26 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 27 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Both (homozygous) - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 28 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Parent #2 - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000024 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 12 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Parent #2 - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 13 - ? Korea Korean - - - - 1 Gianina Ravenscroft
+/+ 4 c.1582G>A r.(?) p.(Glu528Lys) Parent #2 - pathogenic g.42730521G>A g.42689029G>A - - KLHL40_000014 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 16 - ? Japan Japanese - - - - 1 Gianina Ravenscroft
+/+ 4i c.1608-1G>A r.spl p.? Both (homozygous) - pathogenic g.42732350G>A g.42690858G>A - - KLHL40_000015 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 29 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
+/+ 5 c.1612G>C r.(?) p.(Ala538Pro) Both (homozygous) - pathogenic g.42732355G>C g.42690863G>C - - KLHL40_000016 - PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Lammens 1997 Family 30 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/. - c.1709C>T r.(?) p.(Thr570Met) Parent #1 - VUS g.42732452C>T g.42690960C>T - - KLHL40_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139268932 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1738C>A r.(?) p.(Leu580Ile) Unknown - likely benign g.42732481C>A g.42690989C>A KLHL40(NM_152393.4):c.1738C>A (p.L580I) - KLHL40_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755G>A r.(?) p.(=) Unknown - likely benign g.42733374G>A - KLHL40(NM_152393.4):c.1755G>A (p.(Arg585=)) - HHATL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/-? 6 c.1762G>A r.(?) p.(Glu588Lys) Parent #2 - pathogenic g.42733381G>A g.42691889G>A - - KLHL40_000023 variant classification changed based on frequency an present of unaffected homozygous individual (ExAC database) PubMed: Ravenscroft 2013 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Ravenscroft 2013 Family 34 - ? Turkey Turkish - - - - 1 Gianina Ravenscroft
?/. - c.1792C>G r.(?) p.(Arg598Gly) Unknown - VUS g.42733411C>G g.42691919C>G KLHL40(NM_152393.3):c.1792C>G (p.R598G) - KLHL40_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.1849T>C r.(?) p.(Cys617Arg) Unknown - benign g.42733468T>C g.42691976T>C - - KLHL40_000034 - - - rs123509 Unknown ? 0.85 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
+?/. - c.*152G>T r.(=) p.(=) Unknown - likely pathogenic g.42733637G>T - KLHL40(NM_152393.4):c.*152G>T - HHATL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*152G>T r.(=) p.(=) Unknown - likely pathogenic g.42733637G>T - KLHL40(NM_152393.4):c.*152G>T - HHATL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*346T>G r.(=) p.(=) Unknown - likely benign g.42733831T>G - KLHL40(NM_152393.4):c.*346T>G - HHATL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1131T>C r.(=) p.(=) Unknown - VUS g.42734616T>C g.42693124T>C HHATL(NM_020707.3):c.1343A>G (p.(Asn448Ser)) - HHATL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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