Full data view for gene HLCS

Information The variants shown are described using the NM_000411.6 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-392-4272T>G r.(=) p.(=) Unknown - likely benign g.38338742A>C g.36966442A>C HLCS(NM_001242784.1):c.-1202+2T>G (p.(=)) - HLCS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-392-4268C>G r.(=) p.(=) Unknown - VUS g.38338738G>C g.36966438G>C HLCS(NM_001242784.1):c.-1202+6C>G (p.(=)) - HLCS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-257-2139_-257-2138del r.(=) p.(=) Unknown - likely benign g.38320608_38320609del - HLCS(NM_001242784.1):c.-1066-6_-1066-5del (p.(=)) - HLCS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-9A>G r.(=) p.(=) Unknown - likely benign g.38309701T>C - HLCS(NM_001352514.2):c.494-9A>G - HLCS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88A>G r.(?) p.(Lys30Glu) Unknown - VUS g.38309657T>C - HLCS(NM_001352514.2):c.529A>G (p.(Lys177Glu)) - HLCS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88A>T r.(?) p.(Lys30*) Unknown - VUS g.38309657T>A - HLCS(NM_001352514.2):c.529A>T (p.(Lys177*)) - HLCS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Glu42=) Unknown - likely benign g.38309619C>T g.36937319C>T HLCS(NM_001242784.2):c.126G>A (p.E42=) - HLCS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126G>T r.(?) p.(Glu42Asp) Unknown - benign g.38309619C>A g.36937319C>A HLCS(NM_000411.6):c.126G>T (p.(Glu42Asp)), HLCS(NM_001242784.3):c.126G>T (p.E42D) - HLCS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>T r.(?) p.(Glu42Asp) Unknown - likely benign g.38309619C>A g.36937319C>A HLCS(NM_000411.6):c.126G>T (p.(Glu42Asp)), HLCS(NM_001242784.3):c.126G>T (p.E42D) - HLCS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>T r.(?) p.(Glu42Asp) Parent #1 - likely benign g.38309619C>A g.36937319C>A - - HLCS_000016 250 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61732504 Germline - 250/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 250 Mohammed Faruq
-?/. - c.126G>T r.(?) p.(Glu42Asp) Both (homozygous) - likely benign g.38309619C>A g.36937319C>A - - HLCS_000016 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61732504 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
+?/. - c.128_129insTTGA r.(?) p.(Lys44*) Unknown - likely pathogenic g.38309616_38309617insTCAA - HLCS(NM_001242784.2):c.128_129insTTGA (p.K44*) - HLCS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248G>A r.(?) p.(Ser83Asn) Unknown - VUS g.38309497C>T - HLCS(NM_001352514.2):c.689G>A (p.(Ser230Asn)) - HLCS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>G r.(?) p.(Asp88Glu) Unknown - likely benign g.38309481G>C g.36937181G>C HLCS(NM_001242784.2):c.264C>G (p.D88E) - HLCS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285C>T r.(?) p.(Pro95=) Unknown - benign g.38309460G>A g.36937160G>A HLCS(NM_001242784.3):c.285C>T (p.P95=) - HLCS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.286G>A r.(?) p.(Val96Ile) Unknown - benign g.38309459C>T g.36937159C>T HLCS(NM_000411.6):c.286G>A (p.(Val96Ile)), HLCS(NM_001242784.3):c.286G>A (p.V96I) - HLCS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286G>A r.(?) p.(Val96Ile) Unknown - likely benign g.38309459C>T g.36937159C>T HLCS(NM_000411.6):c.286G>A (p.(Val96Ile)), HLCS(NM_001242784.3):c.286G>A (p.V96I) - HLCS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286G>A r.(?) p.(Val96Ile) Parent #1 - likely benign g.38309459C>T g.36937159C>T - - HLCS_000015 251 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61732502 Germline - 251/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 251 Mohammed Faruq
-?/. - c.286G>A r.(?) p.(Val96Ile) Both (homozygous) - likely benign g.38309459C>T g.36937159C>T - - HLCS_000015 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61732502 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.319C>T r.(?) p.(His107Tyr) Unknown - VUS g.38309426G>A g.36937126G>A HLCS(NM_001242784.2):c.319C>T (p.H107Y) - HLCS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468C>A r.(?) p.(Asn156Lys) Unknown - likely benign g.38309277G>T g.36936977G>T HLCS(NM_000411.6):c.468C>A (p.(Asn156Lys)) - HLCS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473C>T r.(?) p.(Thr158Met) Unknown - likely benign g.38309272G>A - HLCS(NM_001242784.2):c.473C>T (p.T158M) - HLCS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.632C>T r.(?) p.(Thr211Met) Unknown - likely benign g.38309113G>A g.36936813G>A HLCS(NM_001242784.2):c.632C>T (p.T211M) - HLCS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.796A>C r.(?) p.(Thr266Pro) Unknown - VUS g.38308949T>G - HLCS(NM_001352514.2):c.1237A>C (p.(Thr413Pro)) - HLCS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.834C>T r.(?) p.(Ser278=) Unknown - benign g.38308911G>A g.36936611G>A HLCS(NM_001242784.3):c.834C>T (p.S278=) - HLCS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.885del r.(?) p.(Val296SerfsTer20) Unknown - pathogenic g.38308863del - - - HLCS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.890G>A r.(?) p.(Arg297Gln) Unknown - likely benign g.38308855C>T g.36936555C>T HLCS(NM_001242784.2):c.890G>A (p.R297Q) - HLCS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.971G>A r.(?) p.(Arg324His) Unknown - benign g.38308774C>T g.36936474C>T HLCS(NM_001242784.3):c.971G>A (p.R324H) - HLCS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>T r.(?) p.(Gly325Trp) Unknown - VUS g.38308772C>A - HLCS(NM_001242784.2):c.973G>T (p.G325W) - HLCS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039C>T r.(?) p.(Pro347Ser) Unknown - VUS g.38302691G>A - HLCS(NM_001352514.2):c.1480C>T (p.(Pro494Ser)) - HLCS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1179+7del r.(=) p.(=) Unknown - benign g.38302545del g.36930245del HLCS(NM_001242784.3):c.1179+7delT - HLCS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179+7del r.(=) p.(=) Unknown - likely benign g.38302545del g.36930245del HLCS(NM_001242784.3):c.1179+7delT - HLCS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1179+2784C>T r.(?) p.(=) Unknown ACMG VUS g.38299767G>A g.36927467G>A - - HLCS_000050 - - - - De novo - 1/12 - - - DNA MS, SEQ-NG-I blood WGS ADHD 275C - - M - Hong Kong Chinese - - - - 1 Larry Baum
-/. - c.1180-13_1180-10del r.(=) p.(=) Unknown - benign g.38269448_38269451del - HLCS(NM_001242784.2):c.1180-13_1180-10delCTTT - HLCS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1370G>A r.(?) p.(Arg457His) Unknown - likely benign g.38269241C>T g.36896941C>T HLCS(NM_001242784.2):c.1370G>A (p.R457H) - HLCS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1452-6C>T r.(=) p.(=) Unknown - benign g.38139592G>A g.36767291G>A HLCS(NM_001242784.2):c.1452-6C>T - HLCS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495G>A r.(?) p.(Ala499Thr) Unknown - VUS g.38139543C>T - HLCS(NM_001242784.2):c.1495G>A (p.A499T) - HLCS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1519+16T>A r.(=) p.(=) Unknown - benign g.38139503A>T g.36767202A>T HLCS(NM_001242784.3):c.1519+16T>A - HLCS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1624C>T r.(?) p.(Gln542*) Parent #1 - pathogenic g.38137369G>A g.36765068G>A - - HLCS_000029 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727957 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1671C>T r.(?) p.(Pro557=) Unknown - likely benign g.38137322G>A g.36765021G>A HLCS(NM_001242784.2):c.1671C>T (p.P557=) - HLCS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Glu558Lys) Unknown - likely benign g.38137321C>T g.36765020C>T HLCS(NM_000411.6):c.1672G>A (p.(Glu558Lys)), HLCS(NM_001242784.2):c.1672G>A (p.E558K), HLCS(NM_001242784.3):c.1672G>A (p.E558K) - HLCS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Glu558Lys) Unknown - likely benign g.38137321C>T g.36765020C>T HLCS(NM_000411.6):c.1672G>A (p.(Glu558Lys)), HLCS(NM_001242784.2):c.1672G>A (p.E558K), HLCS(NM_001242784.3):c.1672G>A (p.E558K) - HLCS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Glu558Lys) Unknown - likely benign g.38137321C>T g.36765020C>T HLCS(NM_000411.6):c.1672G>A (p.(Glu558Lys)), HLCS(NM_001242784.2):c.1672G>A (p.E558K), HLCS(NM_001242784.3):c.1672G>A (p.E558K) - HLCS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1688A>G r.(?) p.(Asn563Ser) Unknown - likely benign g.38132135T>C g.36759834T>C HLCS(NM_001242784.2):c.1688A>G (p.N563S) - HLCS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1774G>A r.(?) p.(Glu592Lys) Unknown - VUS g.38132049C>T - HLCS(NM_001352514.2):c.2215G>A (p.(Glu739Lys)) - HLCS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1795+9C>T r.(=) p.(=) Unknown - likely benign g.38132019G>A g.36759718G>A HLCS(NM_000411.8):c.1795+9C>T - HLCS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920C>T r.(?) p.(Val640=) Unknown - likely benign g.38128932G>A g.36756631G>A HLCS(NM_001242784.3):c.1920C>T (p.V640=) - HLCS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1920_1921insT r.(?) p.(Val641Cysfs*108) Parent #1 ACMG pathogenic (recessive) g.38128931_38128932insA g.36756630_36756631insA - - HLCS_000047 Only one pathogenic variant was identified in autosomal recessive holocarboxylase synthetase deficiency. Microarray test was also performed in this patient (negative). Candidate to whole genome sequencing; Donti 2016:X27114915, Suzuki 2005:16134170, Aoki 1999:10190325 - ClinVar-1413934 rs760372711 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing holocarboxylase synthetase deficiency 3bINP-036 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-/. - c.1921G>A r.(?) p.(Val641Met) Unknown - benign g.38128931C>T g.36756630C>T HLCS(NM_001242784.2):c.1921G>A (p.V641M) - HLCS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1966C>T r.(?) p.(Pro656Ser) Unknown - VUS g.38128886G>A - HLCS(NM_001352514.2):c.2407C>T (p.(Pro803Ser)) - HLCS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2009+2T>A r.spl? p.? Unknown - pathogenic g.38128841A>T - HLCS(NM_001242784.2):c.2009+2T>A - HLCS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142C>T r.(?) p.(Phe714=) Unknown - likely benign g.38126586G>A g.36754285G>A HLCS(NM_001242784.2):c.2142C>T (p.F714=) - HLCS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7_*9del r.(=) p.(=) Unknown - benign g.38126539_38126541del g.36754238_36754240del HLCS(NM_001242784.3):c.*7_*9delGCG - HLCS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*40A>G r.(=) p.(=) Parent #1 - likely benign g.38126507T>C g.36754206T>C - - HLCS_000028 127 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77014096 Germline - 127/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 127 Mohammed Faruq
-?/. - c.*40A>G r.(=) p.(=) Both (homozygous) - likely benign g.38126507T>C g.36754206T>C - - HLCS_000028 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77014096 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.*1744G>A r.(=) p.(=) Parent #1 - VUS g.38124803C>T g.36752502C>T - - HLCS_000027 106 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117270429 Germline - 106/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 106 Mohammed Faruq
?/. - c.*1744G>A r.(=) p.(=) Both (homozygous) - VUS g.38124803C>T g.36752502C>T - - HLCS_000027 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117270429 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.*6333G>T r.(=) p.(=) Unknown - VUS g.38120214C>A - SIM2(NM_005069.5):c.1825C>A (p.R609S) - HLCS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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