All variants in the SIL1 gene

Information The variants shown are described using the NM_001037633.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-7183426_*14454282dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
+/. - c.(-11+1_-10+1)_(244+1_245-1)del r.spl p.(?) ACMG pathogenic g.? g.? SIL1 exon 3 to 4 deletion hom - RAD50_000000 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
-/. - c.-6C>G r.(?) p.(=) - benign g.138463538G>C g.139127849G>C SIL1(NM_001037633.1):c.-6C>G - SIL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-6C>G r.(?) p.(=) - benign g.138463538G>C g.139127849G>C SIL1(NM_001037633.1):c.-6C>G - SIL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.70G>A r.(?) p.(Ala24Thr) - likely benign g.138463463C>T g.139127774C>T SIL1(NM_001037633.2):c.70G>A (p.A24T) - SIL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.106-132C>T r.(=) p.(=) - VUS g.138456994G>A g.139121305G>A - - SIL1_000001 - PubMed: Almomani 2011 {dbSNP:11750382} - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.152C>T r.(?) p.(Thr51Ile) - benign g.138456816G>A g.139121127G>A SIL1(NM_001037633.1):c.152C>T (p.T51I) - SIL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.153A>G r.(?) p.(Thr51=) - benign g.138456815T>C g.139121126T>C SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=) - SIL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.153A>G r.(?) p.(Thr51=) - benign g.138456815T>C g.139121126T>C SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=) - SIL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.153A>G r.(?) p.(Thr51=) - benign g.138456815T>C g.139121126T>C SIL1(NM_001037633.1):c.153A>G (p.T51=), SIL1(NM_001037633.2):c.153A>G (p.T51=) - SIL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4 c.178G>T r.(?) p.(Glu60*) - pathogenic g.138456790C>A g.139121101C>A - - SIL1_000005 - PubMed: O'Grady 2016 - - Germline yes - - - - Sandra Cooper
-?/. - c.189T>G r.(?) p.(Asp63Glu) - likely benign g.138456779A>C g.139121090A>C SIL1(NM_001037633.1):c.189T>G (p.D63E, p.(Asp63Glu)) - SIL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.189T>G r.(?) p.(Asp63Glu) - VUS g.138456779A>C g.139121090A>C SIL1(NM_001037633.1):c.189T>G (p.D63E, p.(Asp63Glu)) - SIL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.238C>A r.(?) p.(Gln80Lys) - likely benign g.138456730G>T g.139121041G>T SIL1(NM_001037633.1):c.238C>A (p.Q80K) - SIL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.239A>G r.(?) p.(Gln80Arg) - VUS g.138456729T>C g.139121040T>C SIL1(NM_001037633.1):c.239A>G (p.Q80R) - SIL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.245-124G>T r.(=) p.(=) - VUS g.138386859C>A g.139051170C>A - - SIL1_000003 - PubMed: Almomani 2011 {dbSNP:3828600} - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.262G>A r.(?) p.(Gly88Arg) - VUS g.138386718C>T - SIL1(NM_022464.5):c.262G>A (p.(Gly88Arg)) - SIL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.274C>T r.(?) p.(Arg92Trp) - benign g.138386706G>A g.139051017G>A SIL1(NM_001037633.1):c.274C>T (p.R92W), SIL1(NM_022464.5):c.274C>T (p.R92W) - SIL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.274C>T r.(?) p.(Arg92Trp) - benign g.138386706G>A - - - SIL1_000018 - PubMed: Chakravorty 2020 - - Germline - - - - - Johan den Dunnen
-/. - c.274C>T r.(?) p.(Arg92Trp) - benign g.138386706G>A - SIL1(NM_001037633.1):c.274C>T (p.R92W), SIL1(NM_022464.5):c.274C>T (p.R92W) - SIL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.274C>T r.(?) p.(Arg92Trp) - VUS g.138386706G>A g.139051017G>A - - SIL1_000018 - PubMed: Reis 2013 - rs149242794 Germline no - - - - Johan den Dunnen
?/. - c.287A>G r.(?) p.(Gln96Arg) - VUS g.138386693T>C g.139051004T>C SIL1(NM_001037633.1):c.287A>G (p.Q96R) - SIL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.331C>T r.(?) p.(Arg111*) - pathogenic (recessive) g.138386649G>A - - - SIL1_000040 - PubMed: Annesi 2007 - - Germline yes - - - - Johan den Dunnen
+/. - c.331C>T r.(?) p.(Arg111*) - pathogenic (recessive) g.138386649G>A g.139050960G>A - - SIL1_000040 - PubMed: Annesi 2007 - - Germline yes - - - - Johan den Dunnen
+/. 5 c.347del r.(?) p.(Gly116Alafs*42) - pathogenic g.138386634del g.139050945del 346delG - SIL1_000006 - PubMed: O'Grady 2016 - - Germline yes - - - - Sandra Cooper
-/. - c.368C>T r.(?) p.(Thr123Ile) - benign g.138378394G>A g.139042705G>A SIL1(NM_001037633.1):c.368C>T (p.(Thr123Ile)) - SIL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.368C>T r.(?) p.(Thr123Ile) - likely benign g.138378394G>A g.139042705G>A SIL1(NM_001037633.1):c.368C>T (p.(Thr123Ile)) - SIL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.378C>A r.(?) p.(Tyr126*) - VUS g.138378384G>T - SIL1(NM_022464.5):c.378C>A (p.(Tyr126*)) - SIL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.394A>C r.(?) p.(Lys132Gln) - benign g.138378368T>G g.139042679T>G SIL1(NM_001037633.1):c.394A>C (p.K132Q) - SIL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.460C>T r.(?) p.(Gln154*) - pathogenic g.138362675G>A g.139026986G>A - - SIL1_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs774441811 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. - c.646-230T>C r.(=) p.(=) - VUS g.138357211A>G g.139021522A>G - - SIL1_000002 - PubMed: Almomani 2011 {dbSNP:3749665} - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.648G>A r.(?) p.(Met216Ile) - likely benign g.138356979C>T g.139021290C>T SIL1(NM_001037633.1):c.648G>A (p.(Met216Ile)) - SIL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.656C>T r.(?) p.(Ala219Val) - VUS g.138356971G>A - SIL1(NM_022464.5):c.656C>T (p.(Ala219Val)) - SIL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.699T>C r.(?) p.(Asn233=) - likely benign g.138356928A>G - SIL1(NM_001037633.1):c.699T>C (p.N233=) - SIL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.724G>A r.(?) p.(Val242Met) - VUS g.138356903C>T g.139021214C>T SIL1(NM_001037633.1):c.724G>A (p.V242M) - SIL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 7i c.767+2T>A r.spl p.? - likely pathogenic g.138356858A>T g.139021169A>T - - SIL1_000038 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. - c.900C>T r.(?) p.(Phe300=) - likely benign g.138286989G>A g.138951300G>A SIL1(NM_001037633.1):c.900C>T (p.F300=) - SIL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.913C>T r.(?) p.(Arg305Trp) - VUS g.138286976G>A g.138951287G>A SIL1(NM_001037633.1):c.913C>T (p.R305W) - SIL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.933G>A r.(?) p.(Gly311=) - likely benign g.138286956C>T g.138951267C>T SIL1(NM_001037633.1):c.933G>A (p.G311=) - SIL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.947dup r.(?) p.(Arg317GlufsTer35) - VUS g.138286942dup g.138951253dup SIL1(NM_001037633.1):c.947_948insT (p.(Arg317GlufsTer35)), SIL1(NM_001037633.1):c.947dupT (p.R317Efs*35) - SIL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.947dup r.(?) p.(Arg317GlufsTer35) - pathogenic g.138286942dup g.138951253dup SIL1(NM_001037633.1):c.947_948insT (p.(Arg317GlufsTer35)), SIL1(NM_001037633.1):c.947dupT (p.R317Efs*35) - SIL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.947T>G r.(?) p.(Leu316Arg) - VUS g.138286942A>C - SIL1(NM_022464.5):c.947T>G (p.(Leu316Arg)) - SIL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.988G>A r.(?) p.(Val330Met) - VUS g.138286901C>T g.138951212C>T SIL1(NM_001037633.1):c.988G>A (p.V330M) - SIL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.991C>T r.(?) p.(Arg331Cys) - VUS g.138286898G>A g.138951209G>A SIL1(NM_001037633.1):c.991C>T (p.R331C) - SIL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9i c.1030-18G>A r.spl p.? - pathogenic g.138283180C>T g.138947491C>T - - SIL1_000037 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1030-9G>A r.(=) p.(=) ACMG pathogenic g.138283171C>T g.138947482C>T NM_022464.4:c.1030-9G>A - SIL1_000035 ACMG PVS1, PS4, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.1030-9G>A r.(=) p.(=) - pathogenic g.138283171C>T - - - SIL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1030-9G>A r.spl p.(Phe345Alafs*9) - pathogenic (recessive) g.138283171C>T g.138947482C>T - - SIL1_000035 - PubMed: Patel 2017 - - Germline yes - - - - Johan den Dunnen
+/. - c.1030-9G>A r.spl p.(Phe345Alafs*9) - pathogenic (recessive) g.138283171C>T g.138947482C>T - - SIL1_000035 - PubMed: Patel 2017 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1036G>A r.(?) p.(Ala346Thr) - likely benign g.138283156C>T - SIL1(NM_001037633.2):c.1036G>A (p.A346T) - SIL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1088A>C r.(?) p.(Gln363Pro) - VUS g.138283104T>G g.138947415T>G SIL1(NM_001037633.1):c.1088A>C (p.Q363P) - SIL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1093C>T r.(?) p.(Arg365Cys) - VUS g.138283099G>A g.138947410G>A - - SIL1_000039 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.1094G>A r.(?) p.(Arg365His) - likely benign g.138283098C>T g.138947409C>T SIL1(NM_001037633.1):c.1094G>A (p.R365H) - SIL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1120T>A r.(?) p.(Trp374Arg) - likely benign g.138283072A>T g.138947383A>T SIL1(NM_001037633.1):c.1120T>A (p.W374R) - SIL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 10 c.1260_1279delinsCAC r.(?) p.(Arg420SerfsTer3) - pathogenic g.138282913_138282932delinsGTG g.138947224_138947243delinsGTG - - SIL1_000036 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1312C>T r.(?) p.(Gln438Ter) - pathogenic g.138282880G>A g.138947191G>A SIL1(NM_001037633.1):c.1312C>T (p.Q438*) - SIL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1351G>A r.(?) p.(Gly451Ser) - likely benign g.138282841C>T g.138947152C>T SIL1(NM_001037633.1):c.1351G>A (p.G451S) - SIL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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