Full data view for gene GUSB

Information The variants shown are described using the NM_000181.3 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.7C>T r.(?) p.(Arg3Trp) Unknown - VUS g.65447164G>A g.65982177G>A GUSB(NM_000181.3):c.7C>T (p.(Arg3Trp)) - GUSB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25T>C r.(?) p.(Trp9Arg) Unknown - VUS g.65447146A>G - GUSB(NM_000181.4):c.25T>C (p.(Trp9Arg)) - GUSB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.65447106C>G - GUSB(NM_000181.4):c.65G>C (p.(Gly22Ala)) - GUSB_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185A>G r.(?) p.(Gln62Arg) Unknown - VUS g.65446986T>C g.65981999T>C GUSB(NM_000181.3):c.185A>G (p.(Gln62Arg)) - GUSB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.189G>A r.(?) p.(Trp63*) Unknown - pathogenic (recessive) g.65981995C>T g.65981995C>T - - GUSB_000046 - - - - Germline - - - - - DNA ARMS - - GSD7 - - - - - - - - - - - 1 Xueying Su
+/. - c.189G>A r.(?) p.(Trp63*) Unknown - pathogenic g.65446982C>T g.65981995C>T - - GUSB_000046 - - - - Germline - - - - - DNA ARMS - - GSD7 - - - - - - - - - - - 1 Xueying Su
-?/. - c.222C>T r.(?) p.(Thr74=) Unknown - likely benign g.65445385G>A g.65980398G>A GUSB(NM_000181.3):c.222C>T (p.T74=) - GUSB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.230T>G r.(?) p.(Met77Arg) Unknown - pathogenic g.65445377A>C - - - GUSB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295G>A r.(?) p.(Val99Met) Unknown - VUS g.65445312C>T - GUSB(NM_000181.3):c.295G>A (p.V99M) - GUSB_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300G>C r.(?) p.(Trp100Cys) Unknown - VUS g.65445307C>G g.65980320C>G - - GUSB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307C>T r.(?) p.(Arg103Trp) Unknown - pathogenic g.65445300G>A - GUSB(NM_000181.4):c.307C>T (p.(Arg103Trp)) - GUSB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334A>T r.(?) p.(Thr112Ser) Unknown - likely benign g.65445273T>A - GUSB(NM_000181.3):c.334A>T (p.T112S) - GUSB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.396+8C>T r.(=) p.(=) Unknown - VUS g.65445203G>A g.65980216G>A GUSB(NM_000181.3):c.396+8C>T (p.(=)) - GUSB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400G>C r.(?) p.(Val134Leu) Unknown - VUS g.65444895C>G - GUSB(NM_000181.4):c.400G>C (p.(Val134Leu)) - GUSB_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.434G>A r.(?) p.(Gly145Asp) Unknown - likely pathogenic g.65444861C>T - GUSB(NM_000181.4):c.434G>A (p.(Gly145Asp)) - GUSB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434G>T r.(?) p.(Gly145Val) Unknown - VUS g.65444861C>A - GUSB(NM_000181.4):c.434G>T (p.(Gly145Val)) - GUSB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439C>T r.(?) p.(Leu147Phe) Unknown - VUS g.65444856G>A - GUSB(NM_000181.4):c.439C>T (p.(Leu147Phe)) - GUSB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Asp152Asn) Unknown - VUS g.65444841C>T g.65979854C>T GUSB(NM_000181.3):c.454G>A (p.D152N), GUSB(NM_000181.4):c.454G>A (p.D152N) - GUSB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Asp152Asn) Unknown - VUS g.65444841C>T g.65979854C>T GUSB(NM_000181.3):c.454G>A (p.D152N), GUSB(NM_000181.4):c.454G>A (p.D152N) - GUSB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.454G>A r.(?) p.(Asp152Asn) Unknown - likely pathogenic g.65444841C>T g.65979854C>T GUSB(NM_000181.3):c.454G>A (p.D152N), GUSB(NM_000181.4):c.454G>A (p.D152N) - GUSB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493C>T r.(?) p.(Arg165Trp) Unknown - VUS g.65444802G>A - GUSB(NM_000181.3):c.493C>T (p.(Arg165Trp)) - GUSB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>T r.(?) p.(Leu176Phe) Unknown - pathogenic g.65444769G>A g.65979782G>A GUSB(NM_000181.4):c.526C>T (p.L176F) - GUSB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.646C>T r.(?) p.(Arg216Trp) Unknown - likely pathogenic g.65444464G>A g.65979477G>A GUSB(NM_000181.4):c.646C>T (p.(Arg216Trp), p.R216W) - GUSB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646C>T r.(?) p.(Arg216Trp) Unknown - pathogenic g.65444464G>A - GUSB(NM_000181.4):c.646C>T (p.(Arg216Trp), p.R216W) - GUSB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724+25_724+26dup r.(=) p.(=) Unknown - benign g.65444363_65444364dup g.65979376_65979377dup GUSB(NM_000181.4):c.724+24_724+25dupCT - GUSB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725-16C>T r.(=) p.(=) Unknown - likely benign g.65441205G>A g.65976218G>A GUSB(NM_000181.4):c.725-16C>T - GUSB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.869C>T r.(?) p.(Pro290Leu) Unknown - pathogenic g.65441045G>A g.65976058G>A - - GUSB_000045 - - - - Germline - - - - - DNA ARMS - - GSD7 - - - - - - - - - - - 1 Xueying Su
+/. - c.965_966del r.(?) p.(Leu322ProfsTer30) Unknown - pathogenic g.65440006_65440007del g.65975019_65975020del GUSB(NM_000181.3):c.965_966delTC (p.L322Pfs*30) - GUSB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020G>A r.(?) p.(=) Unknown - likely benign g.65439951C>T - GUSB(NM_000181.3):c.1020G>A (p.(Gly340=)) - GUSB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038C>T r.(?) p.(His346=) Unknown - likely benign g.65439933G>A - GUSB(NM_000181.3):c.1038C>T (p.H346=) - GUSB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1051C>T r.(?) p.(His351Tyr) Unknown - likely pathogenic g.65439920G>A g.65974933G>A GUSB(NM_000181.4):c.1051C>T (p.H351Y) - GUSB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1061C>T r.(?) p.(Ala354Val) Parent #1 - pathogenic g.65439910G>A g.65974923G>A - - GUSB_000033 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918175 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1069C>T r.(?) p.(Arg357Ter) Unknown - pathogenic g.65439688G>A g.65974701G>A GUSB(NM_000181.3):c.1069C>T (p.R357*), GUSB(NM_000181.4):c.1069C>T (p.(Arg357*), p.R357*) - GUSB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1069C>T r.(?) p.(Arg357Ter) Unknown - pathogenic g.65439688G>A g.65974701G>A GUSB(NM_000181.3):c.1069C>T (p.R357*), GUSB(NM_000181.4):c.1069C>T (p.(Arg357*), p.R357*) - GUSB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1069C>T r.(?) p.(Arg357Ter) Unknown - pathogenic g.65439688G>A g.65974701G>A GUSB(NM_000181.3):c.1069C>T (p.R357*), GUSB(NM_000181.4):c.1069C>T (p.(Arg357*), p.R357*) - GUSB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1069C>T r.(?) p.(Arg357*) Both (homozygous) - pathogenic (recessive) g.65439688G>A g.65974701G>A NM_000181.3:c.1069C>T:p.(Arg357*) - GUSB_000010 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0947 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.1069C>T r.(?) p.(Arg357Ter) Unknown - pathogenic g.65439688G>A - GUSB(NM_000181.3):c.1069C>T (p.R357*), GUSB(NM_000181.4):c.1069C>T (p.(Arg357*), p.R357*) - GUSB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1144C>T r.(?) p.(Arg382Cys) Parent #1 - likely pathogenic g.65439613G>A g.65974626G>A - - GUSB_000032 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918173 Germline - 19/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
+/. - c.1144C>T r.(?) p.(Arg382Cys) Both (homozygous) - pathogenic (recessive) g.65439613G>A g.65974626G>A NM_000181.3:c.1144C>T:p.(Arg382Cys) - GUSB_000032 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0042 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
?/. - c.1174G>T r.(?) p.(Val392Leu) Unknown - VUS g.65439583C>A g.65974596C>A - - GUSB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1192C>T r.(?) p.(Arg398Cys) Both (homozygous) - likely pathogenic g.65439565G>A g.65974578G>A GUSB(NM_000181.3):c.1192C>T(p.R398C) - GUSB_000039 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 125 - - - DNA SEQ-NG-I blood - ? WHP25 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
?/. - c.1214A>G r.(?) p.(Asp405Gly) Unknown - VUS g.65439543T>C g.65974556T>C - - GUSB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Pro408Ser) Unknown - pathogenic g.65439535G>A g.65974548G>A GUSB(NM_000181.4):c.1222C>T (p.P408S) - GUSB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1228G>A r.(?) p.(Val410Met) Unknown - likely pathogenic g.65439529C>T - GUSB(NM_000181.4):c.1228G>A (p.(Val410Met)) - GUSB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1244C>T r.(?) p.(Pro415Leu) Unknown - pathogenic g.65439513G>A g.65974526G>A GUSB(NM_000181.4):c.1244C>T (p.P415L) - GUSB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1261G>A r.(?) p.(Val421Ile) Unknown - VUS g.65439412C>T - GUSB(NM_000181.3):c.1261G>A (p.(Val421Ile)) - GUSB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1291G>A r.(?) p.(Glu431Lys) Unknown - likely benign g.65439382C>T g.65974395C>T GUSB(NM_000181.3):c.1291G>A (p.E431K, p.(Glu431Lys)) - GUSB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1291G>A r.(?) p.(Glu431Lys) Unknown - VUS g.65439382C>T - GUSB(NM_000181.3):c.1291G>A (p.E431K, p.(Glu431Lys)) - GUSB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1429C>T r.(?) p.(Arg477Trp) Unknown - likely pathogenic g.65435316G>A g.65970329G>A GUSB(NM_000181.3):c.1429C>T (p.(Arg477Trp)) - GUSB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1429C>T r.(?) p.(Arg477Trp) Both (homozygous) - pathogenic (recessive) g.65435316G>A g.65970329G>A NM_000181.3:c.1429C>T:p.(Arg477Trp) - GUSB_000022 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG1255 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
?/. - c.1429C>T r.(?) p.(Arg477Trp) Unknown - VUS g.65435316G>A - GUSB(NM_000181.3):c.1429C>T (p.(Arg477Trp)) - GUSB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1457_1460del r.(?) p.(Asn486MetfsTer12) Unknown - pathogenic g.65435288_65435291del g.65970301_65970304del GUSB(NM_000181.3):c.1457_1460delACTA (p.N486Mfs*12) - GUSB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1476G>T r.(?) p.(Gly492=) Unknown - likely pathogenic g.65435269C>A g.65970282C>A - - GUSB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1476+3G>A r.spl? p.? Unknown - VUS g.65435266C>T - GUSB(NM_000181.3):c.1476+3G>A - GUSB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1482G>A r.(?) p.(=) Unknown - likely benign g.65432889C>T - GUSB(NM_000181.3):c.1482G>A (p.(Pro494=)) - GUSB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1484A>G r.(?) p.(Tyr495Cys) Both (homozygous) ACMG pathogenic g.65432887T>C g.65967900T>C - - GUSB_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS7 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.1618G>A r.(?) p.(Glu540Lys) Unknown - VUS g.65432753C>T - GUSB(NM_000181.3):c.1618G>A (p.E540K) - GUSB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1720G>A r.(?) p.(Asp574Asn) Unknown - pathogenic g.65429379C>T - - - VKORC1L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1740C>T r.(?) p.(Tyr580=) Unknown - benign g.65429359G>A g.65964372G>A GUSB(NM_000181.4):c.1740C>T (p.Y580=) - GUSB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1745T>C r.(?) p.(Val582Ala) Unknown - pathogenic g.65429354A>G g.65964367A>G - - GUSB_000044 - - - - Germline - - - - - DNA ARMS - - GSD7 - - - - - - - - - - - 1 Xueying Su
-?/. - c.1790-8_1790-5del r.spl? p.? Unknown - likely benign g.65426065_65426068del g.65961078_65961081del GUSB(NM_000181.3):c.1790-8_1790-5delTTTT - VKORC1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-8_1790-5del r.spl? p.? Unknown - likely benign g.65426065_65426068del - GUSB(NM_000181.4):c.1790-8_1790-5delTTTT - VKORC1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-7_1790-5del r.spl? p.? Unknown - likely benign g.65426066_65426068del g.65961079_65961081del GUSB(NM_000181.3):c.1790-7_1790-5delTTT - VKORC1L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-7_1790-5del r.spl? p.? Unknown - likely benign g.65426066_65426068del - GUSB(NM_000181.4):c.1790-7_1790-5delTTT - VKORC1L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1790-5del r.spl? p.? Unknown - benign g.65426068del g.65961081del GUSB(NM_000181.3):c.1790-5del (p.?), GUSB(NM_000181.3):c.1790-5delT - GUSB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-5del r.spl? p.? Unknown - likely benign g.65426068del g.65961081del GUSB(NM_000181.3):c.1790-5del (p.?), GUSB(NM_000181.3):c.1790-5delT - GUSB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-5dup r.spl? p.? Unknown - likely benign g.65426068dup g.65961081dup GUSB(NM_000181.3):c.1790-5dupT, GUSB(NM_000181.3):c.1790-5dupT (p.?), GUSB(NM_000181.4):c.1790-5dupT - GUSB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1790-5dup r.spl? p.? Unknown - benign g.65426068dup - GUSB(NM_000181.3):c.1790-5dupT, GUSB(NM_000181.3):c.1790-5dupT (p.?), GUSB(NM_000181.4):c.1790-5dupT - GUSB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1790-5dup r.spl? p.? Unknown - benign g.65426068dup - GUSB(NM_000181.3):c.1790-5dupT, GUSB(NM_000181.3):c.1790-5dupT (p.?), GUSB(NM_000181.4):c.1790-5dupT - GUSB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-2A>T r.spl? p.? Unknown - likely benign g.65426052T>A g.65961065T>A GUSB(NM_000181.3):c.1790-2A>T (p.?) - VKORC1L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790-1G>T r.spl? p.? Unknown - likely benign g.65426051C>A g.65961064C>A GUSB(NM_000181.3):c.1790-1G>T (p.?) - VKORC1L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1854A>G r.(?) p.(Ala618=) Unknown - likely benign g.65425986T>C g.65960999T>C GUSB(NM_000181.3):c.1854A>G (p.A618=) - GUSB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1856C>T r.(?) p.(Ala619Val) Parent #1 - pathogenic g.65425984G>A g.65960997G>A - - GUSB_000031 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918172 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.1892A>G r.(?) p.(Asn631Ser) Unknown - likely benign g.65425948T>C g.65960961T>C GUSB(NM_000181.3):c.1892A>G (p.N631S), GUSB(NM_000181.4):c.1892A>G (p.(Asn631Ser)) - GUSB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1892A>G r.(?) p.(Asn631Ser) Unknown - VUS g.65425948T>C - GUSB(NM_000181.3):c.1892A>G (p.N631S), GUSB(NM_000181.4):c.1892A>G (p.(Asn631Ser)) - GUSB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1946T>C r.(?) p.(Leu649Pro) Unknown - benign g.65425894A>G g.65960907A>G GUSB(NM_000181.4):c.1946T>C (p.L649P) - GUSB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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