Full data view for gene SPTAN1

Information The variants shown are described using the NM_001130438.2 transcript reference sequence.

262 entries on 3 pages. Showing entries 1 - 100.
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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.-4+2654C>T r.(=) p.(=) Unknown - likely benign g.131317629C>T - SPTAN1(NM_001375312.2):c.-17C>T - WDR34_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1_57 c.(?_-30)_(*220_?) r.(?) p.0? Parent #1 - pathogenic g.(?_131314949)_(131395833_?)del - - - SPTAN1_000001 complex rearrangement (2.25 Mb deletion, 204 Kb inversion) involving 46 genes PubMed: Saitsu 2010, PubMed: Saitsu 2008 - - De novo - - - - - DNA arrayCGH, SEQ - - DEE4 - PubMed: Tohyama 2008 - F - Japan - - - - - 1 LOVD
?/. - c.190C>T r.(?) p.(Leu64Phe) Unknown - VUS g.131329209C>T g.128566930C>T - - WDR34_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>T r.(?) p.(Ala67Ser) Unknown - likely benign g.131329218G>T g.128566939G>T SPTAN1(NM_001130438.2):c.199G>T (p.A67S) - SPTAN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237+4C>T r.spl? p.? Unknown - likely benign g.131329260C>T - SPTAN1(NM_001130438.3):c.237+4C>T - WDR34_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238-9C>T r.(?) p.(=) Paternal (confirmed) - likely benign g.131331042C>T g.128568763C>T - - SPTAN1_000083 - PubMed: Abela 2016 - - Germline - - - - - DNA SEQ-NG-I blood WES EE 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - - - - 2 Anaïs Begemann
+/. 2 c.271G>A r.(?) p.(Glu91Lys) Unknown - pathogenic g.131331084G>A g.128568805G>A - - SPTAN1_000006 - PubMed: Gilissen 2014 - - De novo - - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
?/. - c.283A>G r.(?) p.(Asn95Asp) Unknown - VUS g.131331096A>G g.128568817A>G SPTAN1(NM_001130438.2):c.283A>G (p.(Asn95Asp)) - WDR34_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388C>A r.(?) p.(Gln130Lys) Unknown - VUS g.131336978C>A - SPTAN1(NM_001363759.2):c.388C>A (p.Q130K) - WDR34_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>A r.(?) p.(Glu202Lys) Unknown - VUS g.131337577G>A - SPTAN1(NM_001130438.2):c.604G>A (p.(Glu202Lys)) - WDR34_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.652-6G>A r.(=) p.(=) Unknown - likely benign g.131339096G>A g.128576817G>A SPTAN1(NM_001130438.2):c.652-6G>A - SPTAN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.667G>T r.(?) p.(Glu223*) Unknown - pathogenic g.131339117G>T - SPTAN1(NM_001130438.3):c.667G>T (p.E223*) - WDR34_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.917C>T r.(?) p.(Ala306Val) Unknown - likely pathogenic g.131339539C>T g.128577260C>T SPTAN1(NM_001130438.2):c.917C>T (p.A306V) - SPTAN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.930+17G>A r.(=) p.(=) Unknown - benign g.131339569G>A - SPTAN1(NM_001130438.2):c.930+17G>A - WDR34_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.931-16C>T r.(=) p.(=) Unknown - likely benign g.131339615C>T - SPTAN1(NM_001130438.2):c.931-16C>T - WDR34_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992A>G r.(?) p.(Gln331Arg) Unknown - VUS g.131339692A>G - SPTAN1(NM_001363759.2):c.992A>G (p.Q331R) - WDR34_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1035G>T r.(?) p.(Gln345His) Unknown - VUS g.131339735G>T - SPTAN1(NM_001363759.1):c.1035G>T (p.Q345H) - WDR34_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154A>G r.(?) p.(Asn385Ser) Unknown - likely benign g.131340457A>G - SPTAN1(NM_001130438.3):c.1154A>G (p.N385S) - WDR34_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1221+11C>T r.(=) p.(=) Unknown - benign g.131340535C>T g.128578256C>T SPTAN1(NM_001130438.2):c.1221+11C>T - SPTAN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242A>G r.(?) p.(Glu414=) Unknown - likely benign g.131341936A>G - SPTAN1(NM_001363759.1):c.1242A>G (p.E414=) - WDR34_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286C>T r.(?) p.(Ala429Val) Unknown - likely benign g.131341980C>T g.128579701C>T SPTAN1(NM_001130438.2):c.1286C>T (p.A429V) - SPTAN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_168:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_230:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_31:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_407:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_565:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 4/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_578:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 4/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_584:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 6/567 controls - - - DNA SEQ-NG - - Healthy/Control S_62:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 4/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_628:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
./. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - VUS g.131341997T>G g.128579718T>G - - SPTAN1_000010 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144787939 Germline - 4/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_665:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - likely benign g.131341997T>G g.128579718T>G SPTAN1(NM_001130438.2):c.1303T>G (p.S435A), SPTAN1(NM_001130438.3):c.1303T>G (p.S435A) - SPTAN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303T>G r.(?) p.(Ser435Ala) Unknown - likely benign g.131341997T>G - SPTAN1(NM_001130438.2):c.1303T>G (p.S435A), SPTAN1(NM_001130438.3):c.1303T>G (p.S435A) - SPTAN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1324-246_2012-53del r.(?) p.(Leu442Glufs*2) Unknown - pathogenic g.131342955_131346014del g.128580676_128583735del - - SPTAN1_000008 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1330G>A r.(?) p.(Val444Ile) Both (homozygous) - pathogenic g.131343207G>A g.128580928G>A NM_001195532: c.G1330A; p.V444I - SPTAN1_000025 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5966 PubMed: Karaca 2015 - - - - - - - family structure in paper - 3 Johan den Dunnen
-/. - c.1330G>A r.(?) p.(Val444Ile) Unknown - benign g.131343207G>A g.128580928G>A SPTAN1(NM_001130438.2):c.1330G>A (p.(Val444Ile), p.V444I) - SPTAN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330G>A r.(?) p.(Val444Ile) Unknown - likely benign g.131343207G>A g.128580928G>A - - SPTAN1_000025 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.080 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1330G>A r.(?) p.(Val444Ile) Unknown - likely benign g.131343207G>A - SPTAN1(NM_001130438.2):c.1330G>A (p.(Val444Ile), p.V444I) - SPTAN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1375C>T r.(?) p.(Arg459Cys) Unknown - likely benign g.131343252C>T g.128580973C>T SPTAN1(NM_001130438.2):c.1375C>T (p.R459C) - SPTAN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376G>A r.(?) p.(Arg459His) Parent #1 - VUS g.131343253G>A g.128580974G>A - - SPTAN1_000084 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201948749 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.1462G>C r.(?) p.(Ala488Pro) Unknown - likely benign g.131344061G>C - SPTAN1(NM_001130438.2):c.1462G>C (p.(Ala488Pro)) - WDR34_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1511C>T r.(?) p.(Ala504Val) Unknown - VUS g.131344110C>T g.128581831C>T - - SPTAN1_000011 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs148727077 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_461:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1511C>T r.(?) p.(Ala504Val) Unknown - likely benign g.131344110C>T g.128581831C>T SPTAN1(NM_001130438.2):c.1511C>T (p.A504V) - SPTAN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1631T>G r.(?) p.(Val544Gly) Unknown - VUS g.131344816T>G - SPTAN1(NM_001363759.1):c.1631T>G (p.V544G) - WDR34_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678G>A r.(?) p.(Glu560Lys) Unknown - VUS g.131345000G>A - - - SPTAN1_000093 - - - - De novo - - - - - DNA SEQ-NG - WES EIEE5 108P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.1737C>T r.(?) p.(Phe579=) Unknown - likely benign g.131345059C>T - SPTAN1(NM_001363759.1):c.1737C>T (p.F579=) - WDR34_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1765G>C r.(?) p.(Val589Leu) Unknown - likely benign g.131345087G>C - SPTAN1(NM_001130438.3):c.1765G>C (p.(Val589Leu)) - WDR34_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1792G>C r.(?) p.(Asp598His) Unknown - VUS g.131345114G>C - SPTAN1(NM_001363759.1):c.1792G>C (p.D598H) - WDR34_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806+15G>T r.(=) p.(=) Unknown - likely benign g.131345143G>T g.128582864G>T SPTAN1(NM_001130438.2):c.1806+15G>T - SPTAN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1819C>A r.(?) p.(Leu607Ile) Unknown - VUS g.131345368C>A g.128583089C>A SPTAN1(NM_001130438.2):c.1819C>A (p.L607I) - SPTAN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1953T>C r.(?) p.(Ala651=) Unknown - likely benign g.131345502T>C - SPTAN1(NM_001130438.2):c.1953T>C (p.A651=) - WDR34_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2108C>T r.(?) p.(Ser703Leu) Unknown - VUS g.131346163C>T g.128583884C>T - - SPTAN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2163= r.(=) p.(Ala721=) Unknown - benign g.131346218A>C g.128583939A>C SPTAN1(NM_001130438.3):c.2163A>C (p.A721=) - SPTAN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2193+61A>G r.(=) p.(=) Unknown - benign g.131346309A>G g.128584030A>G SPTAN1(NM_001130438.2):c.2193+61A>G - SPTAN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2194-13T>G r.(=) p.(=) Unknown - benign g.131346548T>G g.128584269T>G SPTAN1(NM_001130438.3):c.2194-13T>G - SPTAN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2224C>T r.(?) p.(Arg742Cys) Unknown - VUS g.131346591C>T g.128584312C>T - - SPTAN1_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_627:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
?/. - c.2263A>G r.(?) p.(Ile755Val) Unknown - VUS g.131346630A>G - SPTAN1(NM_001363759.1):c.2263A>G (p.I755V) - WDR34_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2378T>C r.(?) p.(Val793Ala) Unknown - likely benign g.131346745T>C - SPTAN1(NM_001130438.2):c.2378T>C (p.(Val793Ala)) - WDR34_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2402G>A r.(?) p.(Arg801Gln) Unknown - VUS g.131346769G>A g.128584490G>A - - SPTAN1_000013 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_252:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2560+3G>A r.spl? p.? Unknown - likely benign g.131347125G>A - SPTAN1(NM_001130438.3):c.2560+3G>A - WDR34_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2610A>G r.(?) p.(Gln870=) Unknown - likely benign g.131348076A>G - SPTAN1(NM_001363759.1):c.2610A>G (p.Q870=) - WDR34_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2753A>G r.(?) p.(Tyr918Cys) Unknown - likely benign g.131348219A>G - SPTAN1(NM_001130438.3):c.2753A>G (p.Y918C) - WDR34_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2778+20G>A r.(=) p.(=) Unknown - likely benign g.131348264G>A g.128585985G>A SPTAN1(NM_001130438.2):c.2778+20G>A - WDR34_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2783T>A r.(?) p.(Leu928Gln) Unknown - VUS g.131349889T>A g.128587610T>A - - SPTAN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834G>C r.(?) p.(Ser945Thr) Unknown - VUS g.131349940G>C g.128587661G>C SPTAN1(NM_001130438.3):c.2834G>C (p.S945T) - SPTAN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2880G>A r.(?) p.(Val960=) Unknown - likely benign g.131351096G>A g.128588817G>A SPTAN1(NM_001130438.2):c.2880G>A (p.V960=) - WDR34_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2889G>A r.(?) p.(Thr963=) Unknown - likely benign g.131351105G>A - SPTAN1(NM_001363759.1):c.2889G>A (p.T963=) - WDR34_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2962A>G r.(?) p.(Met988Val) Unknown - VUS g.131351178A>G g.128588899A>G - - WDR34_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3007-115G>A r.(=) p.(=) Unknown - benign g.131353641G>A g.128591362G>A SPTAN1(NM_001130438.2):c.3007-115G>A - SPTAN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3099G>T r.(?) p.(Glu1033Asp) Unknown - VUS g.131353848G>T g.128591569G>T - - SPTAN1_000014 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs374682395 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_154:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.3099G>T r.(?) p.(Glu1033Asp) Unknown - likely benign g.131353848G>T g.128591569G>T SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D) - SPTAN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3099G>T r.(?) p.(Glu1033Asp) Unknown - likely benign g.131353848G>T - SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D) - SPTAN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3099G>T r.(?) p.(Glu1033Asp) Unknown - likely benign g.131353848G>T - SPTAN1(NM_001130438.2):c.3099G>T (p.(Glu1033Asp), p.E1033D), SPTAN1(NM_001130438.3):c.3099G>T (p.E1033D) - SPTAN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3101A>G r.(?) p.(Asn1034Ser) Unknown - likely benign g.131353850A>G g.128591571A>G - - SPTAN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3134G>A r.(?) p.(Arg1045Gln) Unknown - VUS g.131353883G>A g.128591604G>A - - SPTAN1_000015 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs368406599 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_344:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.3134G>A r.(?) p.(Arg1045Gln) Unknown - likely benign g.131353883G>A g.128591604G>A SPTAN1(NM_001130438.2):c.3134G>A (p.R1045Q), SPTAN1(NM_001130438.3):c.3134G>A (p.R1045Q) - SPTAN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3134G>A r.(?) p.(Arg1045Gln) Unknown - VUS g.131353883G>A - SPTAN1(NM_001130438.2):c.3134G>A (p.R1045Q), SPTAN1(NM_001130438.3):c.3134G>A (p.R1045Q) - SPTAN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3158C>T r.(?) p.(Thr1053Ile) Unknown - likely benign g.131355264C>T g.128592985C>T SPTAN1(NM_001130438.2):c.3158C>T (p.(Thr1053Ile)) - WDR34_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3160C>T r.(?) p.(Arg1054Cys) Unknown - likely benign g.131355266C>T - SPTAN1(NM_001130438.2):c.3160C>T (p.(Arg1054Cys)) - WDR34_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3161G>A r.(?) p.(Arg1054His) Paternal (confirmed) ACMG VUS g.131355267G>A g.128592988G>A R1054H - SPTAN1_000094 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - target gene panel epilepsy Pat105 PubMed: Zhou 2018 family, 1 affected, unaffected carrier father M - China - - - - - 1 Johan den Dunnen
?/. - c.3167C>T r.(?) p.(Thr1056Ile) Unknown - VUS g.131355273C>T g.128592994C>T SPTAN1(NM_001130438.2):c.3167C>T (p.T1056I) - SPTAN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3196A>G r.(?) p.(Met1066Val) Unknown - likely benign g.131355302A>G g.128593023A>G SPTAN1(NM_001130438.2):c.3196A>G (p.M1066V) - SPTAN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3334G>A r.(?) p.(Ala1112Thr) Unknown - VUS g.131356572G>A - - - WDR34_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3415-155C>T r.(=) p.(=) Unknown - benign g.131360524C>T g.128598245C>T SPTAN1(NM_001130438.2):c.3415-155C>T - SPTAN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3415-115_3415-114del r.(=) p.(=) Unknown - benign g.131360564_131360565del g.128598285_128598286del SPTAN1(NM_001130438.2):c.3415-115_3415-114delTT - SPTAN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3415-114del r.(=) p.(=) Unknown - benign g.131360565del g.128598286del SPTAN1(NM_001130438.2):c.3415-114delT - SPTAN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3415-112del r.(=) p.(=) Unknown - benign g.131360567del g.128598288del SPTAN1(NM_001130438.2):c.3415-112delG - SPTAN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3424G>T r.(?) p.(Ala1142Ser) Unknown - VUS g.131360688G>T g.128598409G>T - - SPTAN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3460G>A r.(?) p.(Ala1154Thr) Unknown - VUS g.131360724G>A g.128598445G>A SPTAN1(NM_001130438.2):c.3460G>A (p.A1154T), SPTAN1(NM_001130438.3):c.3460G>A (p.A1154T) - SPTAN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3460G>A r.(?) p.(Ala1154Thr) Unknown - VUS g.131360724G>A - SPTAN1(NM_001130438.2):c.3460G>A (p.A1154T), SPTAN1(NM_001130438.3):c.3460G>A (p.A1154T) - SPTAN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3486C>T r.(?) p.(Leu1162=) Unknown - benign g.131360750C>T g.128598471C>T SPTAN1(NM_001130438.3):c.3486C>T (p.L1162=) - SPTAN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3486C>T r.(?) p.(Leu1162=) Unknown - benign g.131360750C>T g.128598471C>T SPTAN1(NM_001130438.3):c.3486C>T (p.L1162=) - SPTAN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3520-14C>G r.(=) p.(=) Unknown - likely benign g.131361228C>G g.128598949C>G SPTAN1(NM_001130438.2):c.3520-14C>G - SPTAN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3520-7C>T r.(=) p.(=) Unknown ACMG VUS g.131361235C>T g.128598956C>T NM_001363759.2:c.3520-7C>T - SPTAN1_000095 ACMG PM2,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat72 PubMed: Chuan 2022 - F - China - - - - - 1 Johan den Dunnen
./. - c.3673C>T r.(?) p.(Arg1225Trp) Unknown - VUS g.131366650C>T g.128604371C>T - - SPTAN1_000016 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_702:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.3719+196G>C r.(=) p.(=) Unknown - likely benign g.131366892G>C - SPTAN1(NM_001130438.3):c.3719+196G>C - WDR34_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3720-5T>G r.spl? p.? Unknown - VUS g.131367308T>G g.128605029T>G - - SPTAN1_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200543425 Germline - 4/567 controls - - - DNA SEQ-NG - - Healthy/Control S_186:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.3720-5T>G r.spl? p.? Unknown - VUS g.131367308T>G g.128605029T>G - - SPTAN1_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200543425 Germline - 4/567 controls - - - DNA SEQ-NG - - Healthy/Control S_375:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.3720-5T>G r.spl? p.? Unknown - VUS g.131367308T>G g.128605029T>G - - SPTAN1_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200543425 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_678:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
./. - c.3720-5T>G r.spl? p.? Unknown - VUS g.131367308T>G g.128605029T>G - - SPTAN1_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200543425 Germline - 4/567 controls - - - DNA SEQ-NG - - Healthy/Control S_293:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
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