Full data view for gene SLITRK2

Information The variants shown are described using the NM_032539.4 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.-792-1206del r.(=) p.(=) Maternal (inferred) - VUS g.144900786del g.145819268del - - SLITRK2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-792-1206del r.(=) p.(=) Maternal (inferred) - VUS g.144900786del g.145819268del - - SLITRK2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-792-1197del r.(=) p.(=) Maternal (inferred) - VUS g.144900795del g.145819277del - - SLITRK2_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-729-247_-729-246del r.(=) p.(=) Unknown - VUS g.144902619_144902620del g.145821101_145821102del - - SLITRK2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-729-227_-729-226del r.(=) p.(=) Unknown - VUS g.144902639_144902640del g.145821121_145821122del - - SLITRK2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-192-21del r.(=) p.(=) Unknown - VUS g.144903502del g.145821984del - - SLITRK2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-192-21del r.(=) p.(=) Unknown - VUS g.144903502del g.145821984del - - SLITRK2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.26G>T r.(?) p.(Ser9Ile) Unknown - VUS g.144903969G>T g.145822451G>T SLITRK2(NM_032539.4):c.26G>T (p.(Ser9Ile)) - SLITRK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26G>T r.(?) p.(Ser9Ile) Unknown ACMG VUS g.144903969G>T g.145822451G>T - - SLITRK2_000021 ACMG PM2, PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD DECIPHER PubMed: El Chehadeh 2022 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.43G>A r.(?) p.(Gly15Arg) Unknown - VUS g.144903986G>A g.145822468G>A SLITRK2(NM_032539.4):c.43G>A (p.G15R) - SLITRK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44G>A r.(?) p.(Gly15Glu) Unknown ACMG VUS g.144903987G>A g.145822469G>A - - SLITRK2_000036 ACMG PM2, PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD DECIPHER PubMed: El Chehadeh 2022 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.44G>A r.(?) p.(Gly15Glu) Unknown - VUS g.144903987G>A - SLITRK2(NM_032539.4):c.44G>A (p.(Gly15Glu)) - SLITRK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151T>C r.(?) p.(Phe51Leu) Unknown - VUS g.144904094T>C g.145822576T>C SLITRK2(NM_032539.4):c.151T>C (p.F51L) - CXorf1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221T>C r.(?) p.(Leu74Ser) Unknown - VUS g.144904164T>C g.145822646T>C - - SLITRK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.221T>C r.(?) p.(Leu74Ser) Maternal (confirmed) ACMG likely pathogenic (recessive) g.144904164T>C g.145822646T>C - - SLITRK2_000028 ACMG PM2, PS3, PP1 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.441T>C r.(?) p.(Ser147=) Unknown - likely benign g.144904384T>C g.145822866T>C SLITRK2(NM_032539.4):c.441T>C (p.S147=) - CXorf1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601G>A r.(?) p.(Val201Ile) Unknown ACMG likely benign g.144904544G>A g.145823026G>A - - SLITRK2_000037 ACMG BS2, PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: El Chehadeh 2022 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.624C>T r.(?) p.(Ile208=) Unknown - likely benign g.144904567C>T g.145823049C>T SLITRK2(NM_032539.4):c.624C>T (p.I208=) - CXorf1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628G>A r.(?) p.(Glu210Lys) Maternal (confirmed) ACMG VUS g.144904571G>A g.145823053G>A - - SLITRK2_000038 ACMG PM2, PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother/grandmother M - United States - - - - - 1 Johan den Dunnen
+/. 5 c.789T>A r.(?) p.(Cys263*) Maternal (confirmed) - likely pathogenic g.144904732T>A g.145823214T>A - - SLITRK2_000035 - - - - Germline yes - - - - DNA SEQ-NG - - ID ID1-3 - - M no - South Asian - - - - 1 Hammal Khan Zehri
+/. - c.789T>A r.(?) p.(Cys263*) Maternal (confirmed) ACMG VUS g.144904732T>A g.145823214T>A - - SLITRK2_000035 - Journal: Afsar 2024 - - Germline - - - - - DNA SEQ-NG-IT - - ? SLITRK2 Journal: Afsar 2024 2-generation family, 1 affected, unaffected carrier mother M - (Pakistan) - - - - - 1 Muhammad Umair
?/. - c.870T>G r.(?) p.(Asn290Lys) Unknown - VUS g.144904813T>G g.145823295T>G SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K) - SLITRK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870T>G r.(?) p.(Asn290Lys) Unknown - likely benign g.144904813T>G g.145823295T>G SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K) - SLITRK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>G r.(?) p.(Pro311Ala) Unknown - VUS g.144904874C>G g.145823356C>G - - SLITRK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>G r.(?) p.(Pro311Ala) Unknown ACMG VUS g.144904874C>G g.145823356C>G - - SLITRK2_000029 ACMG PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: El Chehadeh 2022 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.934A>G r.(?) p.(Thr312Ala) Maternal (confirmed) ACMG likely pathogenic (recessive) g.144904877A>G g.145823359A>G - - SLITRK2_000039 ACMG PM2, PS3, PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - United States white - - - - 1 Johan den Dunnen
?/. - c.939T>C r.(?) p.(=) Maternal (inferred) - VUS g.144904882T>C g.145823364T>C - - SLITRK2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.939T>C r.(?) p.(=) Maternal (inferred) - VUS g.144904882T>C g.145823364T>C - - SLITRK2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5 c.939T>C r.(?) p.(=) Parent #1 - likely benign g.144904882T>C g.145823364T>C P313P - SLITRK2_000001 recurrent, found 147 times PubMed: Tarpey 2009 - - Germline - 147/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 147 Lucy Raymond
-?/. 5 c.987G>A r.(?) p.(=) Parent #1 - likely benign g.144904930G>A g.145823412G>A V329V - SLITRK2_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.1121C>G r.(?) p.(Pro374Arg) Maternal (confirmed) ACMG likely pathogenic (recessive) g.144905064C>G g.145823546C>G - - SLITRK2_000040 ACMG PM2, PS3, PP1, PP3; de novo in unaffected mother PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.1276C>T r.(?) p.(Arg426Cys) Unknown ACMG likely pathogenic (recessive) g.144905219C>T g.145823701C>T - - SLITRK2_000041 ACMG PM2, PS2, PS3, PP3 PubMed: El Chehadeh 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
?/. - c.1375A>G r.(?) p.(Ile459Val) Unknown - VUS g.144905318A>G - - - SLITRK2_000046 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1381G>T r.(?) p.(Glu461Ter) Unknown ACMG likely pathogenic (recessive) g.144905324G>T g.145823806G>T - - SLITRK2_000042 ACMG PM2, PS2, PS3, PP3 PubMed: El Chehadeh 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: El Chehadeh 2022 2-generation family, 2 affected brothers (2M), unaffected non-carrier parents M - France white - - - - 2 Johan den Dunnen
+?/. - c.1381G>T r.(?) p.(Glu461Ter) Unknown ACMG likely pathogenic (recessive) g.144905324G>T g.145823806G>T - - SLITRK2_000042 ACMG PM2, PS2, PS3, PP3 PubMed: El Chehadeh 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat2 PubMed: El Chehadeh 2022 brother M - France white - - - - 1 Johan den Dunnen
?/. - c.1451G>A r.(?) p.(Arg484Gln) Unknown - VUS g.144905394G>A g.145823876G>A SLITRK2(NM_032539.4):c.1451G>A (p.R484Q) - CXorf1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451G>A r.(?) p.(Arg484Gln) Unknown ACMG VUS g.144905394G>A g.145823876G>A - - CXorf1_000005 ACMG PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: El Chehadeh 2022 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1468A>G r.(?) p.(Ile490Val) Unknown - likely benign g.144905411A>G g.145823893A>G SLITRK2(NM_032539.4):c.1468A>G (p.I490V) - CXorf1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.1495C>T r.(?) p.(=) Parent #1 - likely benign g.144905438C>T g.145823920C>T L499L - SLITRK2_000032 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1531G>A r.(?) p.(Val511Met) Maternal (confirmed) ACMG VUS g.144905474G>A g.145823956G>A - - SLITRK2_000043 ACMG PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.1536A>G r.(?) p.(Lys512=) Unknown - likely benign g.144905479A>G g.145823961A>G SLITRK2(NM_032539.4):c.1536A>G (p.K512=) - CXorf1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580A>G r.(?) p.(Gln527Arg) Unknown - VUS g.144905523A>G - - - CXorf1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1665G>C r.(?) p.(Glu555Asp) Unknown ACMG likely benign g.144905608G>C g.145824090G>C - - SLITRK2_000044 ACMG PM2; carries pathogenic variant in CUL4B PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: El Chehadeh 2022 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1707A>C r.(?) p.(Leu569=) Unknown - likely benign g.144905650A>C - SLITRK2(NM_032539.4):c.1707A>C (p.L569=) - CXorf1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1801T>C r.(?) p.(Ser601Pro) Parent #1 - VUS g.144905744T>C g.145824226T>C S601P - SLITRK2_000033 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.1804C>T r.(?) p.(Leu602Phe) Unknown - VUS g.144905747C>T g.145824229C>T SLITRK2(NM_001144003.2):c.1804C>T (p.(Leu602Phe)) - SLITRK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.1873T>C r.(?) p.(=) Parent #1 - likely benign g.144905816T>C g.145824298T>C L625L - SLITRK2_000034 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.1948G>A r.(?) p.(Val650Met) Unknown - VUS g.144905891G>A - SLITRK2(NM_032539.5):c.1948G>A (p.V650M) - CXorf1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2104A>G r.(?) p.(Met702Val) Unknown - VUS g.144906047A>G g.145824529A>G - - SLITRK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2132A>G r.(?) p.(Tyr711Cys) Unknown - VUS g.144906075A>G - SLITRK2(NM_032539.4):c.2132A>G (p.(Tyr711Cys)) - CXorf1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2155A>G r.(?) p.(Ser719Gly) Unknown - likely benign g.144906098A>G g.145824580A>G SLITRK2(NM_032539.5):c.2155A>G (p.S719G) - CXorf1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2155A>G r.(?) p.(Ser719Gly) Unknown - VUS g.144906098A>G - SLITRK2(NM_032539.5):c.2155A>G (p.S719G) - CXorf1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2219C>T r.(?) p.(Thr740Ile) Unknown - likely benign g.144906162C>T - SLITRK2(NM_032539.4):c.2219C>T (p.T740I) - SLITRK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2374C>T r.(?) p.(Arg792Cys) Maternal (confirmed) ACMG VUS g.144906317C>T g.145824799C>T - - SLITRK2_000045 ACMG PP3 PubMed: El Chehadeh 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: El Chehadeh 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.2457C>A r.(?) p.(His819Gln) Unknown - VUS g.144906400C>A - SLITRK2(NM_001144005.3):c.2457C>A (p.H819Q) - CXorf1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2500G>A r.(?) p.(Glu834Lys) Unknown - likely benign g.144906443G>A g.145824925G>A - - CXorf1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*206_*208del r.(=) p.(=) Unknown - VUS g.144906687_144906689del g.145825169_145825171del - - SLITRK2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*206_*209del r.(=) p.(=) Maternal (inferred) - VUS g.144906687_144906690del g.145825169_145825172del - - SLITRK2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*206_*210del r.(=) p.(=) Unknown - VUS g.144906687_144906691del g.145825169_145825173del - - SLITRK2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*226_*228del r.(=) p.(=) Maternal (inferred) - VUS g.144906707_144906709del g.145825189_145825191del - - SLITRK2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*2978G>T r.(=) p.(=) Unknown - VUS g.144909459G>T g.145827941G>T TMEM257(NM_004709.2):c.264G>T (p.(Met88Ile)) - CXorf1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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