Full data view for gene SCUBE3

Information The variants shown are described using the NM_152753.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.86-6T>C r.(=) p.(=) Unknown - VUS g.35195351T>C - SCUBE3(NM_152753.4):c.86-6T>C - SCUBE3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284G>A r.(?) p.(Cys95Tyr) Unknown - VUS g.35196466G>A - SCUBE3(NM_152753.4):c.284G>A (p.(Cys95Tyr)) - SCUBE3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291C>G r.(?) p.(Cys97Trp) Both (homozygous) ACMG VUS g.35196473C>G g.35228696C>G - - SCUBE3_000004 - PubMed: Lin 2021, Journal: Lin 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy - - - - - 2 Johan den Dunnen
?/. - c.291C>G r.(?) p.(Cys97Trp) Both (homozygous) ACMG VUS g.35196473C>G g.35228696C>G - - SCUBE3_000004 - PubMed: Lin 2021, Journal: Lin 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1S2 PubMed: Lin 2021, Journal: Lin 2021 sister F yes Italy - - - - - 1 Johan den Dunnen
?/. - c.361G>A r.(?) p.(Gly121Ser) Unknown - VUS g.35199528G>A - SCUBE3(NM_152753.4):c.361G>A (p.(Gly121Ser)) - SCUBE3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Cys182Tyr) Unknown - VUS g.35200702G>A - SCUBE3(NM_152753.4):c.545G>A (p.(Cys182Tyr)) - SCUBE3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611G>A r.(?) p.(Gly204Asp) Both (homozygous) ACMG VUS g.35200977G>A g.35233200G>A - - SCUBE3_000005 - PubMed: Lin 2021, Journal: Lin 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam8S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil - - - - - 1 Johan den Dunnen
?/. - c.632C>T r.(?) p.(Thr211Met) Unknown - VUS g.35200998C>T - SCUBE3(NM_152753.4):c.632C>T (p.(Thr211Met)) - SCUBE3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown - VUS g.35201024C>T - SCUBE3(NM_152753.2):c.658C>T (p.(Arg220Trp)) - SCUBE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691A>G r.(?) p.(Thr231Ala) Unknown - likely benign g.35201057A>G - SCUBE3(NM_001303136.1):c.688A>G (p.(Thr230Ala)) - SCUBE3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i_8i c.829+388_952+157delins713-1052_713-966inv r.830_952del p.Arg282_Cys322del Both (homozygous) ACMG VUS g.35206183_35207808delins35204627_35204713inv g.35238406_35240031delins35236850_35236936inv 829+1_952del - SCUBE3_000006 - PubMed: Lin 2021, Journal: Lin 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? Fam6S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 2 Johan den Dunnen
?/. - c.844C>T r.(?) p.(Arg282Cys) Unknown - VUS g.35207543C>T - SCUBE3(NM_152753.4):c.844C>T (p.(Arg282Cys)) - SCUBE3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878G>A r.(?) p.(Arg293His) Unknown - VUS g.35207577G>A - SCUBE3(NM_152753.4):c.878G>A (p.(Arg293His)) - SCUBE3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898G>A r.(?) p.(Glu300Lys) Unknown - VUS g.35207597G>A - SCUBE3(NM_152753.4):c.898G>A (p.(Glu300Lys)) - SCUBE3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949C>G r.(?) p.(Gln317Glu) Unknown - VUS g.35207648C>G - SCUBE3(NM_001303136.1):c.946C>G (p.(Gln316Glu)) - SCUBE3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952+4A>G r.spl? p.? Unknown - VUS g.35207655A>G - SCUBE3(NM_001303136.2):c.949+4A>G - SCUBE3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1094G>A r.(?) p.(Arg365Gln) Both (homozygous) - VUS g.35208942G>A g.35241165G>A - - SCUBE3_000002 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES obesity 29311637-Fam3 PubMed: Saeed 2018 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.1094G>C r.(?) p.(Arg365Pro) Unknown - VUS g.35208942G>C - SCUBE3(NM_152753.4):c.1094G>C (p.(Arg365Pro)) - SCUBE3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1097dup r.(?) p.(Gly367Argfs*74) Unknown - pathogenic g.35208945dup - SCUBE3(NM_001303136.2):c.1094dupG (p.G366Rfs*74) - SCUBE3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105C>T r.(?) p.(Arg369Cys) Unknown - VUS g.35208953C>T - SCUBE3(NM_152753.2):c.1105C>T (p.(Arg369Cys)) - SCUBE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126C>T r.(?) p.(Pro376Ser) Unknown - VUS g.35208974C>T - SCUBE3(NM_152753.4):c.1126C>T (p.(Pro376Ser)) - SCUBE3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169T>C r.(?) p.(Leu390Pro) Unknown - VUS g.35209017T>C - SCUBE3(NM_152753.4):c.1169T>C (p.(Leu390Pro)) - SCUBE3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1229C>T r.(?) p.(Ser410Leu) Unknown - likely benign g.35209353C>T - SCUBE3(NM_001303136.1):c.1226C>T (p.(Ser409Leu)) - SCUBE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1301G>A r.(?) p.(Arg434Gln) Unknown - likely benign g.35209425G>A - SCUBE3(NM_152753.4):c.1301G>A (p.(Arg434Gln)) - SCUBE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1557C>A r.(?) p.(Cys519Ter) Both (homozygous) - pathogenic g.35210421C>A - - - SCUBE3_000011 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.1594C>T r.(?) p.(Arg532Trp) Unknown - VUS g.35210458C>T - SCUBE3(NM_001303136.1):c.1591C>T (p.(Arg531Trp)) - SCUBE3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1595G>A r.(?) p.(Arg532Gln) Unknown - likely benign g.35210459G>A - SCUBE3(NM_152753.2):c.1595G>A (p.(Arg532Gln)) - SCUBE3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613G>A r.(?) p.(Arg538Gln) Unknown - VUS g.35210477G>A - SCUBE3(NM_152753.4):c.1613G>A (p.(Arg538Gln)) - SCUBE3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1717C>T r.(?) p.(Arg573*) Both (homozygous) ACMG pathogenic (recessive) g.35210821C>T g.35243044C>T - - SCUBE3_000007 - PubMed: Lin 2021, Journal: Lin 2021 - rs1436996181 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3S1 PubMed: Lin 2021, Journal: Lin 2021 3-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents F yes Iran - - - - - 3 Johan den Dunnen
+/. - c.1717C>T r.(?) p.(Arg573*) Both (homozygous) ACMG pathogenic (recessive) g.35210821C>T g.35243044C>T - - SCUBE3_000007 - PubMed: Lin 2021, Journal: Lin 2021 - rs1436996181 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3S2 PubMed: Lin 2021, Journal: Lin 2021 - F yes Iran - - - - - 1 Johan den Dunnen
+/. - c.1717C>T r.(?) p.(Arg573*) Both (homozygous) ACMG pathogenic (recessive) g.35210821C>T g.35243044C>T - - SCUBE3_000007 - PubMed: Lin 2021, Journal: Lin 2021 - rs1436996181 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam3S3 PubMed: Lin 2021, Journal: Lin 2021 - M yes Iran - - - - - 1 Johan den Dunnen
?/. - c.2053_2055del r.(?) p.(Asn685del) Unknown - VUS g.35211514_35211516del - SCUBE3(NM_152753.4):c.2053_2055del (p.(Asn685del)) - SCUBE3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.2239+1G>A r.2239_2240insATGA p.Val747AspfsTer46 Both (homozygous) ACMG pathogenic (recessive) g.35211908G>A g.35244131G>A - - SCUBE3_000008 - PubMed: Lin 2021, Journal: Lin 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? Fam4S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Sri Lanka - - - - - 1 Johan den Dunnen
-?/. - c.2401+4C>T r.spl? p.? Unknown - likely benign g.35212592C>T - SCUBE3(NM_152753.2):c.2401+4C>T (p.?) - SCUBE3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2405G>A r.(?) p.(Arg802His) Unknown - VUS g.35213008G>A - SCUBE3(NM_152753.4):c.2405G>A (p.(Arg802His)) - SCUBE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2444T>C r.(?) p.(Ile815Thr) Both (homozygous) ACMG VUS g.35213047T>C g.35245270T>C - - SCUBE3_000009 - PubMed: Lin 2021, Journal: Lin 2021, PubMed: Jacob 2025 SCV002507148.1 rs751478115 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam2S1;? PubMed: Lin 2021, Journal: Lin 2021, PubMed: Jacob 2025 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes India - - - - - 2 Johan den Dunnen
?/. - c.2444T>C r.(?) p.(Ile815Thr) Both (homozygous) ACMG VUS g.35213047T>C g.35245270T>C - - SCUBE3_000009 - PubMed: Lin 2021, Journal: Lin 2021 - rs751478115 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam2S2 PubMed: Lin 2021, Journal: Lin 2021 brother M yes India - - - - - 1 Johan den Dunnen
?/. - c.2444T>C r.(?) p.(Ile815Thr) Both (homozygous) ACMG VUS g.35213047T>C g.35245270T>C - - SCUBE3_000009 - PubMed: Lin 2021, Journal: Lin 2021 - rs751478115 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam7S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.2533G>A r.(?) p.(Val845Met) Unknown - VUS g.35213136G>A - SCUBE3(NM_152753.4):c.2533G>A (p.(Val845Met)) - SCUBE3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2599+2T>C r.spl? p.? Unknown - pathogenic g.35213204T>C g.35245427T>C SCUBE3(NM_152753.2):c.2599+2T>C (p.?) - SCUBE3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19i c.2599+2T>C r.[(2402_2599del|0.33,2402_2675|0.25,2402_2599delins2401+1_2425|0.17,[2402_2599del;2752_2753ins2752+1_2753-1]|0.17,2402_2535del|)] p.[(Asn801_Ser867delinsThr,Asn801ArgfsTer33,Asn801SerfsTer20,Asn801ThrfsTer78,Val846HisfsTer57)] Both (homozygous) ACMG pathogenic (recessive) g.35213204T>C g.35245427T>C - - SCUBE3_000001 effect on splicing predicted from mini-gene splicing assay PubMed: Lin 2021, Journal: Lin 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam5S2 PubMed: Lin 2021, Journal: Lin 2021 sister F yes Turkey - - - - - 1 Johan den Dunnen
+/. 19i c.2599+2T>C r.[(2402_2599del|0.33,2402_2675|0.25,2402_2599delins2401+1_2425|0.17,[2402_2599del;2752_2753ins2752+1_2753-1]|0.17)] p.[(Asn801_Ser867delinsThr,Asn801ArgfsTer33,Asn801SerfsTer20,Asn801ThrfsTer78,Val846HisfsTer57)] Both (homozygous) ACMG pathogenic (recessive) g.35213204T>C g.35245427T>C - - SCUBE3_000001 effect on splicing predicted from mini-gene splicing assay PubMed: Lin 2021, Journal: Lin 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam5S1 PubMed: Lin 2021, Journal: Lin 2021 2-generation family, affected brother/sisters, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.2719C>T r.(?) p.(Arg907Cys) Unknown - VUS g.35213840C>T - SCUBE3(NM_001303136.1):c.2716C>T (p.(Arg906Cys)) - SCUBE3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2785C>T r.(?) p.(Arg929*) Both (homozygous) ACMG pathogenic (recessive) g.35214015C>T g.35246238C>T - - SCUBE3_000010 - PubMed: Lin 2021, Journal: Lin 2021 - rs1397172310 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam9S1 PubMed: Lin 2021, Journal: Lin 2021 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M yes Israel - - - - - 3 Johan den Dunnen
+/. - c.2785C>T r.(?) p.(Arg929*) Both (homozygous) ACMG pathogenic (recessive) g.35214015C>T g.35246238C>T - - SCUBE3_000010 - PubMed: Lin 2021, Journal: Lin 2021 - rs1397172310 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam9S2 PubMed: Lin 2021, Journal: Lin 2021 - F yes Israel - - - - - 1 Johan den Dunnen
?/. - c.2821G>A r.(?) p.(Glu941Lys) Unknown - VUS g.35214051G>A - SCUBE3(NM_152753.2):c.2821G>A (p.(Glu941Lys)) - SCUBE3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2841del r.(?) p.(Lys947Asnfs*10) Unknown - likely pathogenic g.35216341del - SCUBE3(NM_152753.2):c.2841del (p.(Lys947Asnfs*10)) - SCUBE3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2854T>A r.(?) p.(Phe952Ile) Unknown - VUS g.35216354T>A - SCUBE3(NM_152753.4):c.2854T>A (p.(Phe952Ile)) - SCUBE3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2944C>T r.(?) p.(Arg982Cys) Unknown - VUS g.35216444C>T - SCUBE3(NM_152753.4):c.2944C>T (p.(Arg982Cys)) - SCUBE3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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