Full data view for gene SP110

Information The variants shown are described using the NM_080424.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.-1845G>A r.(?) p.(=) Unknown - VUS g.231086432C>T - SP110(NM_001185015.1):c.5G>A (p.G2E) - SP110_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1815T>A r.(?) p.(=) Unknown - likely benign g.231086402A>T g.230221687A>T SP110(NM_001185015.2):c.17+18T>A - SP110_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249A>G r.(?) p.(Thr83=) Unknown - likely benign g.231079732T>C - SP110(NM_004509.4):c.249A>G (p.T83=) - SP110_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.250T>C r.(?) p.(=) Unknown - likely benign g.231079731A>G - SP110(NM_004509.4):c.250T>C (p.L84=) - SP110_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334= r.(=) p.(Arg112=) Unknown - benign g.231077725A>G - SP110(NM_080424.4):c.334T>C (p.W112R) - SP110_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.335G>A r.(?) p.(Arg112Gln) Unknown - likely pathogenic g.231077724C>T - SP110(NM_004509.4):c.335G>A (p.W112*) - SP110_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.376G>A r.(?) p.(Gly126Ser) Unknown - benign g.231077683C>T g.230212968C>T SP110(NM_080424.2):c.376G>A (p.G126S) - SP110_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Gly126Ser) Parent #1 - likely benign g.231077683C>T g.230212968C>T - - SP110_000011 28 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309088 Germline - 28/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 28 Mohammed Faruq
-?/. - c.376G>A r.(?) p.(Gly126Ser) Both (homozygous) - likely benign g.231077683C>T g.230212968C>T - - SP110_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309088 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.459G>A r.(?) p.(Ala153=) Unknown - likely benign g.231077600C>T - SP110(NM_004509.4):c.459G>A (p.A153=) - SP110_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518C>T r.(?) p.(Ser173Leu) Unknown - likely benign g.231077541G>A - SP110(NM_004509.4):c.518C>T (p.S173L) - SP110_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519G>A r.(?) p.(Ser173=) Unknown - likely benign g.231077540C>T g.230212825C>T SP110(NM_004509.4):c.519G>A (p.S173=) - SP110_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542T>G r.(?) p.(Leu181Arg) Unknown - likely benign g.231077517A>C - SP110(NM_004509.4):c.542T>G (p.L181R) - SP110_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583+15C>T r.(=) p.(=) Unknown - likely benign g.231077461G>A - SP110(NM_004509.4):c.583+15C>T - SP110_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584-10C>G r.(=) p.(=) Unknown - likely benign g.231077155G>C g.230212440G>C SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G - SP110_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584-10C>G r.(=) p.(=) Unknown - likely benign g.231077155G>C g.230212440G>C SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G - SP110_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.617C>T r.(?) p.(Ala206Val) Unknown - benign g.231077112G>A g.230212397G>A SP110(NM_004509.4):c.617C>T (p.A206V) - SP110_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.686dup r.(?) p.(Gln231ProfsTer5) Both (homozygous) ACMG pathogenic g.231076250dup g.230211535dup 586dupT (Q231fs) - SP110_000039 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat8,1 PubMed: Stray-Pedersen 2017 - M - United States - - - - - 1 Johan den Dunnen
-/. - c.895G>A r.(?) p.(Gly299Arg) Unknown - benign g.231072709C>T g.230207994C>T SP110(NM_080424.4):c.895G>A (p.G299R) - SP110_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978T>G r.(?) p.(Thr326=) Unknown - likely benign g.231067365A>C - SP110(NM_080424.2):c.978T>G (p.T326=) - SP110_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989C>T r.(?) p.(Thr330Met) Unknown - likely benign g.231067354G>A - SP110(NM_004509.4):c.989C>T (p.T330M) - SP110_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1030C>G r.(?) p.(Arg344Gly) Unknown - likely benign g.231067313G>C - SP110(NM_080424.2):c.1030C>G (p.R344G) - SP110_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Thr367Met) Unknown - likely benign g.231065630G>A g.230200914G>A SP110(NM_004509.4):c.1100C>T (p.T367M) - SP110_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1225A>T r.(?) p.(Met409Leu) Unknown - VUS g.231050764T>A - SP110(NM_080424.2):c.1225A>T (p.M409L) - SP110_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1274= r.(=) p.(Ser425=) Unknown - benign g.231050715A>G - SP110(NM_080424.4):c.1274T>C (p.L425S) - SP110_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1324T>C r.(?) p.(Phe442Leu) Unknown - likely benign g.231048312A>G g.230183596A>G SP110(NM_080424.2):c.1324T>C (p.F442L) - SP110_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338T>G r.(?) p.(Ile446Met) Unknown - likely benign g.231048298A>C g.230183582A>C SP110(NM_080424.2):c.1338T>G (p.I446M) - SP110_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443A>G r.(?) p.(Lys481=) Unknown - likely benign g.231042877T>C - SP110(NM_080424.2):c.1443A>G (p.K481=) - SP110_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1447G>A r.(?) p.(Gly483Arg) Unknown - benign g.231042873C>T g.230178157C>T SP110(NM_004509.4):c.1447G>A (p.G483R) - SP110_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1447G>A r.(?) p.(Gly483Arg) Parent #1 - likely benign g.231042873C>T g.230178157C>T - - SP110_000008 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149485401 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-/. - c.1447+71G>A r.(=) p.(=) Unknown - benign g.231042802C>T g.230178086C>T SP110(NM_080424.2):c.1447+71G>A - SP110_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464C>T r.(?) p.(Cys488=) Unknown - likely benign g.231042380G>A g.230177664G>A SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=) - SP110_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464C>T r.(?) p.(Cys488=) Unknown - likely benign g.231042380G>A g.230177664G>A SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=) - SP110_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1568T>C r.(?) p.(Met523Thr) Unknown - benign g.231042276A>G g.230177560A>G SP110(NM_080424.4):c.1568T>C (p.M523T) - SP110_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1590+10T>A r.(=) p.(=) Unknown - likely benign g.231042244A>T g.230177528A>T SP110(NM_004509.4):c.1590+10T>A - SP110_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1591-9C>T r.(=) p.(=) Unknown - benign g.231037684G>A g.230172968G>A SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T - SP110_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1591-9C>T r.(=) p.(=) Unknown - likely benign g.231037684G>A g.230172968G>A SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T - SP110_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1647C>T r.(?) p.(Cys549=) Unknown - benign g.231037619G>A g.230172903G>A SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=) - SP110_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1647C>T r.(?) p.(Cys549=) Unknown - likely benign g.231037619G>A - SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=) - SP110_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1660C>G r.(?) p.(Arg554Gly) Unknown - VUS g.231037606G>C g.230172890G>C SP110(NM_080424.2):c.1660C>G (p.R554G) - SP110_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1706+4A>T r.spl? p.? Unknown - VUS g.231037556T>A g.230172840T>A SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T - SP110_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1706+4A>T r.spl? p.? Unknown - likely benign g.231037556T>A - SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T - SP110_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1706+20G>A r.(=) p.(=) Unknown - likely benign g.231037540C>T - SP110(NM_080424.2):c.1706+20G>A - SP110_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1731C>T r.(?) p.(Cys577=) Unknown - benign g.231036866G>A g.230172150G>A SP110(NM_080424.4):c.1731C>T (p.C577=) - SP110_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1757A>G r.(?) p.(Gln586Arg) Unknown - likely benign g.231036840T>C - SP110(NM_080424.2):c.1757A>G (p.Q586R) - SP110_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1802C>T r.(?) p.(Pro601Leu) Unknown - likely benign g.231036795G>A - SP110(NM_080424.2):c.1802C>T (p.P601L) - SP110_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1815+14A>G r.(=) p.(=) Unknown - benign g.231036768T>C g.230172052T>C SP110(NM_080424.4):c.1815+14A>G - SP110_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1955C>T r.(?) p.(Thr652Met) Unknown - likely benign g.231035410G>A g.230170694G>A SP110(NM_080424.2):c.1955C>T (p.T652M) - SP110_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2006G>A r.(?) p.(Arg669His) Unknown - likely benign g.231035359C>T g.230170643C>T SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H) - SP110_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2006G>A r.(?) p.(Arg669His) Unknown - likely benign g.231035359C>T - SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H) - SP110_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2118C>T r.(?) p.(Asp706=) Unknown - likely benign g.231033864G>A - SP110(NM_004509.4):c.2046C>T (p.D682=) - SP110_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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