Full data view for gene HELLS

Information The variants shown are described using the NM_018063.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.153+10G>T r.(=) p.(=) Unknown - likely benign g.96306265G>T - HELLS(NM_018063.5):c.153+10G>T - HELLS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154-4A>C r.spl? p.? Unknown - likely benign g.96313879A>C - HELLS(NM_001289067.1):c.154-4A>C - HELLS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178T>G r.(?) p.(Ser60Ala) Unknown - VUS g.96313907T>G - - - HELLS_000014 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.178T>G r.(?) p.(Ser60Ala) Unknown - VUS g.96313907T>G - - - HELLS_000014 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.277-6T>A r.(=) p.(=) Unknown - likely benign g.96317890T>A - HELLS(NM_018063.5):c.277-6T>A - HELLS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - likely benign g.96322448G>A g.94562691G>A HELLS(NM_001289067.1):c.334G>A (p.G112S), HELLS(NM_018063.5):c.334G>A (p.G112S) - HELLS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - likely benign g.96322448G>A - HELLS(NM_001289067.1):c.334G>A (p.G112S), HELLS(NM_018063.5):c.334G>A (p.G112S) - HELLS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.370+2T>A r.334_370del p.Gly112Leufs*2 Maternal (confirmed) - pathogenic g.96322486T>A g.94562729T>A skips ex5 - HELLS_000002 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - ICF - PubMed: Thijssen 2015 female from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents F no United Kingdom (Great Britain) English >15y - - stem cell transplantation 1 Peter Thijssen
+/. 5i c.370+2T>A r.334_370del p.Gly112Leufs*2 Maternal (confirmed) - pathogenic g.96322486T>A g.94562729T>A skip ex5 - HELLS_000002 - PubMed: Thijssen 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I - - ICF - PubMed: Thijssen 2015 male from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents M no United Kingdom (Great Britain) English >08y - - stem cell transplantation 1 Peter Thijssen
+/. 6 c.374_381dup r.(?) p.(Lys128*) Maternal (confirmed) - pathogenic g.96322572_96322579dup g.94562815_94562822dup c.374_381dup - HELLS_000006 - PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF4 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F no Italy - >05y - - - 1 Peter Thijssen
-?/. - c.410A>G r.(?) p.(Asn137Ser) Unknown - likely benign g.96322608A>G - HELLS(NM_001289067.1):c.410A>G (p.N137S) - HELLS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.610A>T r.(?) p.(Lys204*) Paternal (confirmed) - pathogenic g.96333849A>T g.94574092A>T - - HELLS_000005 - PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF4 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F no Italy - >05y - - - 1 Peter Thijssen
?/. - c.913A>G r.(?) p.(Thr305Ala) Unknown - VUS g.96336443A>G - HELLS(NM_001289067.1):c.913A>G (p.T305A), HELLS(NM_018063.5):c.913A>G (p.T305A) - HELLS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.913A>G r.(?) p.(Thr305Ala) Unknown - likely benign g.96336443A>G - HELLS(NM_001289067.1):c.913A>G (p.T305A), HELLS(NM_018063.5):c.913A>G (p.T305A) - HELLS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.955C>T r.(?) p.(Arg319Trp) Unknown - VUS g.96336485C>T g.94576728C>T HELLS(NM_001289067.1):c.955C>T (p.R319W) - HELLS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957G>C r.(?) p.(=) Unknown - likely benign g.96336487G>C - HELLS(NM_018063.5):c.957G>C (p.R319=) - HELLS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993G>A r.(?) p.(Thr331=) Unknown - likely benign g.96336523G>A g.94576766G>A HELLS(NM_001289067.1):c.993G>A (p.T331=) - HELLS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033-9G>A r.(=) p.(=) Unknown - likely benign g.96341074G>A - HELLS(NM_018063.5):c.1033-9G>A - HELLS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1252A>G r.(?) p.(Thr418Ala) Unknown - likely benign g.96342742A>G - HELLS(NM_018063.5):c.1252A>G (p.T418A) - HELLS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1258C>G r.(?) p.(Leu420Val) Unknown - likely benign g.96342748C>G g.94582991C>G HELLS(NM_001289067.1):c.1258C>G (p.L420V) - HELLS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1568A>T r.(?) p.(Asp523Val) Unknown - likely benign g.96350249A>T - HELLS(NM_018063.5):c.1568A>T (p.D523V) - HELLS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1687A>G r.(?) p.(Ile563Val) Unknown - VUS g.96350453A>G - HELLS(NM_001289067.1):c.1825A>G (p.I609V) - HELLS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1778A>C r.(?) p.(Glu593Ala) Unknown - likely benign g.96351996A>C g.94592239A>C HELLS(NM_001289067.1):c.1916A>C (p.E639A) - HELLS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2005A>T r.(?) p.(Ile669Phe) Unknown - likely benign g.96353289A>T - HELLS(NM_018063.5):c.2005A>T (p.I669F) - HELLS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.2096A>G r.(?) p.(Gln699Arg) Paternal (confirmed) - pathogenic g.96354459A>G g.94594702A>G - - HELLS_000001 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - ICF - PubMed: Thijssen 2015 female from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents F no United Kingdom (Great Britain) English >15y - - stem cell transplantation 1 Peter Thijssen
+/. 19 c.2096A>G r.(?) p.(Gln699Arg) Paternal (confirmed) - pathogenic g.96354459A>G g.94594702A>G - - HELLS_000001 - PubMed: Thijssen 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I - - ICF - PubMed: Thijssen 2015 male from 2-generation family E (2 affected sibs), unaffected heterozygous carrier parents M no United Kingdom (Great Britain) English >08y - - stem cell transplantation 1 Peter Thijssen
-?/. - c.2118T>C r.(?) p.(Asp706=) Unknown - likely benign g.96354481T>C g.94594724T>C HELLS(NM_001289067.1):c.2256T>C (p.D752=) - HELLS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2283_2286del r.(?) p.(Pro762Argfs*4) Both (homozygous) - pathogenic g.96356651_96356654del g.94596894_94596897del 2283_2286delGTCT - HELLS_000003 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF - PubMed: Thijssen 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Japan Japanese 01y03m - - - 1 Peter Thijssen
+?/. 21 c.2400_2402del r.(?) p.(Leu801del) Both (homozygous) - likely pathogenic g.96356846_96356848del g.94597089_94597091del 2400_2402delGTT - HELLS_000004 alpha-satellite hypomethylation PubMed: Thijssen 2015 - - Germline yes - - - - DNA SEQ - - ICF4 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents M yes France - >17y - - - 1 Peter Thijssen
-?/. - c.2423-8T>C r.(=) p.(=) Unknown - likely benign g.96361277T>C - HELLS(NM_018063.5):c.2423-8T>C - HELLS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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