Full data view for gene SUMF1

Information The variants shown are described using the NM_182760.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.58C>T r.(?) p.(Leu20Phe) Unknown - VUS g.4508872G>A - SUMF1(NM_001164674.1):c.58C>T (p.(Leu20Phe)), SUMF1(NM_182760.3):c.58C>T (p.L20F) - SUMF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58C>T r.(?) p.(Leu20Phe) Unknown - likely benign g.4508872G>A - SUMF1(NM_001164674.1):c.58C>T (p.(Leu20Phe)), SUMF1(NM_182760.3):c.58C>T (p.L20F) - SUMF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117C>G r.(?) p.(Thr39=) Unknown - likely benign g.4508813G>C - SUMF1(NM_182760.3):c.117C>G (p.T39=) - SUMF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.188G>A r.(?) p.(Ser63Asn) Unknown - benign g.4508742C>T g.4467058C>T - - SUMF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>C r.(?) p.(Arg69Pro) Unknown - likely benign g.4508724C>G g.4467040C>G SUMF1(NM_001164674.1):c.206G>C (p.(Arg69Pro)), SUMF1(NM_182760.3):c.206G>C (p.R69P) - SUMF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206G>C r.(?) p.(Arg69Pro) Unknown - VUS g.4508724C>G - SUMF1(NM_001164674.1):c.206G>C (p.(Arg69Pro)), SUMF1(NM_182760.3):c.206G>C (p.R69P) - SUMF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212C>T r.(?) p.(Ser71Leu) Unknown - VUS g.4508718G>A - SUMF1(NM_001164674.1):c.212C>T (p.(Ser71Leu)) - SUMF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215G>T r.(?) p.(Arg72Leu) Unknown - VUS g.4508715C>A - SUMF1(NM_182760.3):c.215G>T (p.R72L), SUMF1(NM_182760.4):c.215G>T (p.(Arg72Leu)) - SUMF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215G>T r.(?) p.(Arg72Leu) Unknown - VUS g.4508715C>A - SUMF1(NM_182760.3):c.215G>T (p.R72L), SUMF1(NM_182760.4):c.215G>T (p.(Arg72Leu)) - SUMF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237C>G r.(?) p.(Pro79=) Unknown - likely benign g.4508693G>C - SUMF1(NM_182760.3):c.237C>G (p.P79=) - SUMF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239T>A r.(?) p.(Val80Glu) Unknown - likely benign g.4508691A>T g.4467007A>T SUMF1(NM_182760.3):c.239T>A (p.V80E) - SUMF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299C>G r.(?) p.(Thr100Arg) Unknown - likely benign g.4494705G>C - SUMF1(NM_182760.3):c.299C>G (p.T100R) - SUMF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301A>G r.(?) p.(Met101Val) Unknown - VUS g.4494703T>C - SUMF1(NM_182760.4):c.301A>G (p.(Met101Val)) - SUMF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Gly153=) Unknown - likely benign g.4491010G>A - SUMF1(NM_182760.3):c.459C>T (p.G153=) - SUMF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494A>G r.(?) p.(Gln165Arg) Unknown - likely benign g.4490975T>C - SUMF1(NM_182760.3):c.494A>G (p.Q165R) - SUMF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505A>C r.(?) p.(Asn169His) Unknown - likely benign g.4490964T>G - SUMF1(NM_001164675.1):c.505A>C (p.(Asn169His)) - SUMF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.519A>G r.(?) p.(Ala173=) Unknown - VUS g.4490950T>C - SUMF1(NM_182760.3):c.519A>G (p.A173=) - SUMF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Ala214Val) Unknown - VUS g.4459778G>A - SUMF1(NM_182760.3):c.641C>T (p.A214V) - SUMF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642G>A r.(?) p.(Ala214=) Unknown - likely benign g.4459777C>T g.4418093C>T SUMF1(NM_182760.3):c.642G>A (p.A214=) - SUMF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>C r.(?) p.(Gly222Arg) Unknown - VUS g.4459755C>G g.4418071C>G SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R) - SUMF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>C r.(?) p.(Gly222Arg) Parent #1 - VUS g.4459755C>G g.4418071C>G - - SUMF1_000007 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137917233 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.664G>C r.(?) p.(Gly222Arg) Unknown - VUS g.4459755C>G g.4418071C>G SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R) - SUMF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>C r.(?) p.(Gly222Arg) Unknown - VUS g.4459755C>G - SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R) - SUMF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.706C>T r.(?) p.(Arg236*) Unknown - pathogenic g.4459713G>A - SUMF1(NM_182760.4):c.706C>T (p.(Arg236*)) - SUMF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.836C>T r.(?) p.(Ala279Val) Parent #1 - VUS g.4458816G>A g.4417132G>A - - SUMF1_000009 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852849 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.875A>G r.(?) p.(Tyr292Cys) Unknown - VUS g.4452628T>C - SUMF1(NM_182760.3):c.875A>G (p.(Tyr292Cys)) - SUMF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>T r.(?) p.(Asn297=) Unknown - likely benign g.4452612G>A - SUMF1(NM_182760.3):c.891C>T (p.N297=) - SUMF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Ala298Thr) Unknown - VUS g.4452611C>T g.4410927C>T SUMF1(NM_001164674.1):c.817G>A (p.(Ala273Thr)) - SUMF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954+7A>G r.(=) p.(=) Unknown - likely benign g.4452542T>C g.4410858T>C SUMF1(NM_182760.3):c.954+7A>G - SUMF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1076C>G r.(?) p.(Ser359Trp) Both (homozygous) ACMG likely pathogenic (recessive) g.4403877G>C g.4362193G>C - - SUMF1_000021 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8900233 PubMed: Hu 2019 family, 4 affected individuals, third cousin parents - yes Iran Persia - - - - 4 Johan den Dunnen
-/. - c.1116T>C r.(?) p.(Thr372=) Unknown - benign g.4403837A>G g.4362153A>G SUMF1(NM_182760.4):c.1116T>C (p.T372=) - SUMF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1116T>C r.(?) p.(Thr372=) Unknown - benign g.4403837A>G g.4362153A>G SUMF1(NM_182760.4):c.1116T>C (p.T372=) - SUMF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*10A>G r.(=) p.(=) Unknown - benign g.4403818T>C g.4362134T>C SUMF1(NM_182760.4):c.*10A>G - SUMF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*10A>G r.(=) p.(=) Unknown - benign g.4403818T>C g.4362134T>C SUMF1(NM_182760.4):c.*10A>G - SUMF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11A>T r.(=) p.(=) Unknown - benign g.4403817T>A g.4362133T>A SUMF1(NM_182760.4):c.*11A>T - SUMF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11A>T r.(=) p.(=) Unknown - benign g.4403817T>A g.4362133T>A SUMF1(NM_182760.4):c.*11A>T - SUMF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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